SNP Links for Protein (Select 1034648562) - SNP

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Links from Protein

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Select item 14800101951.

rs1480010195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36028423 (GRCh38)
6:35996200 (GRCh37)
Canonical SPDI:: NC_000006.12:36028422:C:T
Gene:: MAPK14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36028423C>T, NC_000006.11:g.35996200C>T, NG_033897.1:g.1214G>A, XM_011514310.4:c.163C>T, XM_011514310.3:c.163C>T, XM_011514310.2:c.163C>T, XR_007059209.1:n.616C>T, XM_047418232.1:c.163C>T, XM_047418234.1:c.163C>T, XM_047418235.1:c.163C>T, XM_047418233.1:c.163C>T, XR_007059210.1:n.616C>T, XM_047418236.1:c.163C>T, XP_011512612.2:p.His55Tyr, XP_047274188.1:p.His55Tyr, XP_047274190.1:p.His55Tyr, XP_047274191.1:p.His55Tyr, XP_047274189.1:p.His55Tyr, XP_047274192.1:p.His55Tyr

Select item 14781737882.

rs1478173788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36107553 (GRCh38)
6:36075330 (GRCh37)
Canonical SPDI:: NC_000006.12:36107552:C:T
Gene:: MAPK14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.36107553C>T, NC_000006.11:g.36075330C>T, XM_011514310.4:c.1063C>T, XM_011514310.3:c.1063C>T, XM_011514310.2:c.1063C>T, XM_011514310.1:c.865C>T, XM_006714998.4:c.709C>T, XM_006714998.3:c.709C>T, XM_006714998.2:c.709C>T, XM_006714998.1:c.709C>T, NM_139012.3:c.940C>T, NM_139012.2:c.940C>T, NM_001315.3:c.940C>T, NM_001315.2:c.940C>T, NM_139014.3:c.861C>T, NM_139014.2:c.861C>T, XM_047418232.1:c.1063C>T, XM_047418237.1:c.709C>T, XP_011512612.2:p.Pro355Ser, XP_006715061.1:p.Pro237Ser, NP_620581.1:p.Pro314Ser, NP_001306.1:p.Pro314Ser, XP_047274188.1:p.Pro355Ser, XP_047274193.1:p.Pro237Ser

Select item 14693402503.

rs1469340250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36052789 (GRCh38)
6:36020566 (GRCh37)
Canonical SPDI:: NC_000006.12:36052788:C:T
Gene:: MAPK14 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.36052789C>T, NC_000006.11:g.36020566C>T, XM_011514310.4:c.330C>T, XM_011514310.3:c.330C>T, XM_011514310.2:c.330C>T, XM_011514310.1:c.132C>T, XM_006714998.4:c.-25C>T, XM_006714998.3:c.-25C>T, XM_006714998.2:c.-25C>T, XM_006714998.1:c.-25C>T, NM_139012.3:c.207C>T, NM_139012.2:c.207C>T, NM_001315.3:c.207C>T, NM_001315.2:c.207C>T, NM_139014.3:c.207C>T, NM_139014.2:c.207C>T, XM_017010299.3:c.207C>T, XM_017010299.2:c.207C>T, XM_017010299.1:c.207C>T, XM_017010300.3:c.207C>T, XM_017010300.2:c.207C>T, XM_017010300.1:c.207C>T, XR_926065.3:n.557C>T, XR_926065.2:n.613C>T, XR_926065.1:n.730C>T, NM_139013.3:c.207C>T, NM_139013.2:c.207C>T, XR_007059209.1:n.783C>T, XM_047418232.1:c.330C>T, XM_047418237.1:c.-25C>T, XM_047418234.1:c.330C>T, XM_047418235.1:c.330C>T, XM_047418233.1:c.330C>T, XR_007059210.1:n.783C>T, XR_007059211.1:n.557C>T, XM_047418236.1:c.330C>T

Select item 14600531294.

rs1460053129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:36072957 (GRCh38)
6:36040734 (GRCh37)
Canonical SPDI:: NC_000006.12:36072956:T:C
Gene:: MAPK14 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36072957T>C, NC_000006.11:g.36040734T>C, XM_011514310.4:c.513T>C, XM_011514310.3:c.513T>C, XM_011514310.2:c.513T>C, XM_011514310.1:c.315T>C, XM_006714998.4:c.159T>C, XM_006714998.3:c.159T>C, XM_006714998.2:c.159T>C, XM_006714998.1:c.159T>C, NM_139012.3:c.390T>C, NM_139012.2:c.390T>C, NM_001315.3:c.390T>C, NM_001315.2:c.390T>C, NM_139014.3:c.390T>C, NM_139014.2:c.390T>C, XM_017010299.3:c.390T>C, XM_017010299.2:c.390T>C, XM_017010299.1:c.390T>C, XM_017010300.3:c.390T>C, XM_017010300.2:c.390T>C, XM_017010300.1:c.390T>C, XR_926065.3:n.740T>C, XR_926065.2:n.796T>C, XR_926065.1:n.913T>C, NM_139013.3:c.390T>C, NM_139013.2:c.390T>C, XR_007059209.1:n.966T>C, XM_047418232.1:c.513T>C, XM_047418237.1:c.159T>C, XM_047418234.1:c.513T>C, XM_047418235.1:c.513T>C, XM_047418233.1:c.513T>C, XR_007059210.1:n.966T>C, XR_007059211.1:n.740T>C, XM_047418236.1:c.513T>C

Select item 14593366135.

rs1459336613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36108412 (GRCh38)
6:36076189 (GRCh37)
Canonical SPDI:: NC_000006.12:36108411:C:T
Gene:: MAPK14 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.36108412C>T, NC_000006.11:g.36076189C>T, XM_011514310.4:c.1171C>T, XM_011514310.3:c.1171C>T, XM_011514310.2:c.1171C>T, XM_011514310.1:c.973C>T, XM_006714998.4:c.817C>T, XM_006714998.3:c.817C>T, XM_006714998.2:c.817C>T, XM_006714998.1:c.817C>T, NM_139012.3:c.1048C>T, NM_139012.2:c.1048C>T, NM_001315.3:c.1048C>T, NM_001315.2:c.1048C>T, NM_139014.3:c.*45C>T, NM_139014.2:c.*45C>T, XM_047418232.1:c.1171C>T, XM_047418237.1:c.817C>T, XP_011512612.2:p.Pro391Ser, XP_006715061.1:p.Pro273Ser, NP_620581.1:p.Pro350Ser, NP_001306.1:p.Pro350Ser, XP_047274188.1:p.Pro391Ser, XP_047274193.1:p.Pro273Ser

Select item 14517120566.

rs1451712056 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:36074054 (GRCh38)
6:36041831 (GRCh37)
Canonical SPDI:: NC_000006.12:36074053:A:G
Gene:: MAPK14 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36074054A>G, NC_000006.11:g.36041831A>G, XM_011514310.4:c.576A>G, XM_011514310.3:c.576A>G, XM_011514310.2:c.576A>G, XM_011514310.1:c.378A>G, XM_006714998.4:c.222A>G, XM_006714998.3:c.222A>G, XM_006714998.2:c.222A>G, XM_006714998.1:c.222A>G, NM_139012.3:c.453A>G, NM_139012.2:c.453A>G, NM_001315.3:c.453A>G, NM_001315.2:c.453A>G, NM_139014.3:c.453A>G, NM_139014.2:c.453A>G, XM_017010299.3:c.453A>G, XM_017010299.2:c.453A>G, XM_017010299.1:c.453A>G, XM_017010300.3:c.453A>G, XM_017010300.2:c.453A>G, XM_017010300.1:c.453A>G, XR_926065.3:n.803A>G, XR_926065.2:n.859A>G, XR_926065.1:n.976A>G, NM_139013.3:c.453A>G, NM_139013.2:c.453A>G, XR_007059209.1:n.1029A>G, XM_047418232.1:c.576A>G, XM_047418237.1:c.222A>G, XM_047418234.1:c.576A>G, XM_047418235.1:c.576A>G, XM_047418233.1:c.576A>G, XR_007059210.1:n.1029A>G, XR_007059211.1:n.803A>G, XM_047418236.1:c.576A>G

Select item 14484457397.

rs1448445739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:36072964 (GRCh38)
6:36040741 (GRCh37)
Canonical SPDI:: NC_000006.12:36072963:C:A
Gene:: MAPK14 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.36072964C>A, NC_000006.11:g.36040741C>A, XM_011514310.4:c.520C>A, XM_011514310.3:c.520C>A, XM_011514310.2:c.520C>A, XM_011514310.1:c.322C>A, XM_006714998.4:c.166C>A, XM_006714998.3:c.166C>A, XM_006714998.2:c.166C>A, XM_006714998.1:c.166C>A, NM_139012.3:c.397C>A, NM_139012.2:c.397C>A, NM_001315.3:c.397C>A, NM_001315.2:c.397C>A, NM_139014.3:c.397C>A, NM_139014.2:c.397C>A, XM_017010299.3:c.397C>A, XM_017010299.2:c.397C>A, XM_017010299.1:c.397C>A, XM_017010300.3:c.397C>A, XM_017010300.2:c.397C>A, XM_017010300.1:c.397C>A, XR_926065.3:n.747C>A, XR_926065.2:n.803C>A, XR_926065.1:n.920C>A, NM_139013.3:c.397C>A, NM_139013.2:c.397C>A, XR_007059209.1:n.973C>A, XM_047418232.1:c.520C>A, XM_047418237.1:c.166C>A, XM_047418234.1:c.520C>A, XM_047418235.1:c.520C>A, XM_047418233.1:c.520C>A, XR_007059210.1:n.973C>A, XR_007059211.1:n.747C>A, XM_047418236.1:c.520C>A, XP_011512612.2:p.Gln174Lys, XP_006715061.1:p.Gln56Lys, NP_620581.1:p.Gln133Lys, NP_001306.1:p.Gln133Lys, NP_620583.1:p.Gln133Lys, XP_016865788.1:p.Gln133Lys, XP_016865789.1:p.Gln133Lys, NP_620582.1:p.Gln133Lys, XP_047274188.1:p.Gln174Lys, XP_047274193.1:p.Gln56Lys, XP_047274190.1:p.Gln174Lys, XP_047274191.1:p.Gln174Lys, XP_047274189.1:p.Gln174Lys, XP_047274192.1:p.Gln174Lys

Select item 14417274908.

rs1441727490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:36072898 (GRCh38)
6:36040675 (GRCh37)
Canonical SPDI:: NC_000006.12:36072897:G:T
Gene:: MAPK14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36072898G>T, NC_000006.11:g.36040675G>T, XM_011514310.4:c.454G>T, XM_011514310.3:c.454G>T, XM_011514310.2:c.454G>T, XM_011514310.1:c.256G>T, XM_006714998.4:c.100G>T, XM_006714998.3:c.100G>T, XM_006714998.2:c.100G>T, XM_006714998.1:c.100G>T, NM_139012.3:c.331G>T, NM_139012.2:c.331G>T, NM_001315.3:c.331G>T, NM_001315.2:c.331G>T, NM_139014.3:c.331G>T, NM_139014.2:c.331G>T, XM_017010299.3:c.331G>T, XM_017010299.2:c.331G>T, XM_017010299.1:c.331G>T, XM_017010300.3:c.331G>T, XM_017010300.2:c.331G>T, XM_017010300.1:c.331G>T, XR_926065.3:n.681G>T, XR_926065.2:n.737G>T, XR_926065.1:n.854G>T, NM_139013.3:c.331G>T, NM_139013.2:c.331G>T, XR_007059209.1:n.907G>T, XM_047418232.1:c.454G>T, XM_047418237.1:c.100G>T, XM_047418234.1:c.454G>T, XM_047418235.1:c.454G>T, XM_047418233.1:c.454G>T, XR_007059210.1:n.907G>T, XR_007059211.1:n.681G>T, XM_047418236.1:c.454G>T, XP_011512612.2:p.Ala152Ser, XP_006715061.1:p.Ala34Ser, NP_620581.1:p.Ala111Ser, NP_001306.1:p.Ala111Ser, NP_620583.1:p.Ala111Ser, XP_016865788.1:p.Ala111Ser, XP_016865789.1:p.Ala111Ser, NP_620582.1:p.Ala111Ser, XP_047274188.1:p.Ala152Ser, XP_047274193.1:p.Ala34Ser, XP_047274190.1:p.Ala152Ser, XP_047274191.1:p.Ala152Ser, XP_047274189.1:p.Ala152Ser, XP_047274192.1:p.Ala152Ser

Select item 14403287019.

rs1440328701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36059326 (GRCh38)
6:36027103 (GRCh37)
Canonical SPDI:: NC_000006.12:36059325:C:T
Gene:: MAPK14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36059326C>T, NC_000006.11:g.36027103C>T, XM_011514310.4:c.407C>T, XM_011514310.3:c.407C>T, XM_011514310.2:c.407C>T, XM_011514310.1:c.209C>T, XM_006714998.4:c.53C>T, XM_006714998.3:c.53C>T, XM_006714998.2:c.53C>T, XM_006714998.1:c.53C>T, NM_139012.3:c.284C>T, NM_139012.2:c.284C>T, NM_001315.3:c.284C>T, NM_001315.2:c.284C>T, NM_139014.3:c.284C>T, NM_139014.2:c.284C>T, XM_017010299.3:c.284C>T, XM_017010299.2:c.284C>T, XM_017010299.1:c.284C>T, XM_017010300.3:c.284C>T, XM_017010300.2:c.284C>T, XM_017010300.1:c.284C>T, XR_926065.3:n.634C>T, XR_926065.2:n.690C>T, XR_926065.1:n.807C>T, NM_139013.3:c.284C>T, NM_139013.2:c.284C>T, XR_007059209.1:n.860C>T, XM_047418232.1:c.407C>T, XM_047418237.1:c.53C>T, XM_047418234.1:c.407C>T, XM_047418235.1:c.407C>T, XM_047418233.1:c.407C>T, XR_007059210.1:n.860C>T, XR_007059211.1:n.634C>T, XM_047418236.1:c.407C>T, XP_011512612.2:p.Ser136Phe, XP_006715061.1:p.Ser18Phe, NP_620581.1:p.Ser95Phe, NP_001306.1:p.Ser95Phe, NP_620583.1:p.Ser95Phe, XP_016865788.1:p.Ser95Phe, XP_016865789.1:p.Ser95Phe, NP_620582.1:p.Ser95Phe, XP_047274188.1:p.Ser136Phe, XP_047274193.1:p.Ser18Phe, XP_047274190.1:p.Ser136Phe, XP_047274191.1:p.Ser136Phe, XP_047274189.1:p.Ser136Phe, XP_047274192.1:p.Ser136Phe

Select item 143802209710.

rs1438022097 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 6:36028372 (GRCh38)
6:35996149 (GRCh37)
Canonical SPDI:: NC_000006.12:36028371:AA:A
Gene:: MAPK14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.36028373del, NC_000006.11:g.35996150del, NG_033897.1:g.1265del, XM_011514310.4:c.113del, XM_011514310.3:c.113del, XM_011514310.2:c.113del, XR_007059209.1:n.566del, XM_047418232.1:c.113del, XM_047418234.1:c.113del, XM_047418235.1:c.113del, XM_047418233.1:c.113del, XR_007059210.1:n.566del, XM_047418236.1:c.113del, XP_011512612.2:p.Asn38fs, XP_047274188.1:p.Asn38fs, XP_047274190.1:p.Asn38fs, XP_047274191.1:p.Asn38fs, XP_047274189.1:p.Asn38fs, XP_047274192.1:p.Asn38fs

Select item 140832517611.

rs1408325176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:36028486 (GRCh38)
6:35996263 (GRCh37)
Canonical SPDI:: NC_000006.12:36028485:G:C
Gene:: MAPK14 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36028486G>C, NC_000006.11:g.35996263G>C, NG_033897.1:g.1151C>G, XM_011514310.4:c.226G>C, XM_011514310.3:c.226G>C, XM_011514310.2:c.226G>C, XM_011514310.1:c.28G>C, XR_007059209.1:n.679G>C, XM_047418232.1:c.226G>C, XM_047418234.1:c.226G>C, XM_047418235.1:c.226G>C, XM_047418233.1:c.226G>C, XR_007059210.1:n.679G>C, XM_047418236.1:c.226G>C, XP_011512612.2:p.Val76Leu, XP_047274188.1:p.Val76Leu, XP_047274190.1:p.Val76Leu, XP_047274191.1:p.Val76Leu, XP_047274189.1:p.Val76Leu, XP_047274192.1:p.Val76Leu

Select item 140058982112.

rs1400589821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:36072963 (GRCh38)
6:36040740 (GRCh37)
Canonical SPDI:: NC_000006.12:36072962:C:A
Gene:: MAPK14 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36072963C>A, NC_000006.11:g.36040740C>A, XM_011514310.4:c.519C>A, XM_011514310.3:c.519C>A, XM_011514310.2:c.519C>A, XM_011514310.1:c.321C>A, XM_006714998.4:c.165C>A, XM_006714998.3:c.165C>A, XM_006714998.2:c.165C>A, XM_006714998.1:c.165C>A, NM_139012.3:c.396C>A, NM_139012.2:c.396C>A, NM_001315.3:c.396C>A, NM_001315.2:c.396C>A, NM_139014.3:c.396C>A, NM_139014.2:c.396C>A, XM_017010299.3:c.396C>A, XM_017010299.2:c.396C>A, XM_017010299.1:c.396C>A, XM_017010300.3:c.396C>A, XM_017010300.2:c.396C>A, XM_017010300.1:c.396C>A, XR_926065.3:n.746C>A, XR_926065.2:n.802C>A, XR_926065.1:n.919C>A, NM_139013.3:c.396C>A, NM_139013.2:c.396C>A, XR_007059209.1:n.972C>A, XM_047418232.1:c.519C>A, XM_047418237.1:c.165C>A, XM_047418234.1:c.519C>A, XM_047418235.1:c.519C>A, XM_047418233.1:c.519C>A, XR_007059210.1:n.972C>A, XR_007059211.1:n.746C>A, XM_047418236.1:c.519C>A, XP_011512612.2:p.Tyr173Ter, XP_006715061.1:p.Tyr55Ter, NP_620581.1:p.Tyr132Ter, NP_001306.1:p.Tyr132Ter, NP_620583.1:p.Tyr132Ter, XP_016865788.1:p.Tyr132Ter, XP_016865789.1:p.Tyr132Ter, NP_620582.1:p.Tyr132Ter, XP_047274188.1:p.Tyr173Ter, XP_047274193.1:p.Tyr55Ter, XP_047274190.1:p.Tyr173Ter, XP_047274191.1:p.Tyr173Ter, XP_047274189.1:p.Tyr173Ter, XP_047274192.1:p.Tyr173Ter

Select item 140052144613.

rs1400521446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:36096066 (GRCh38)
6:36063843 (GRCh37)
Canonical SPDI:: NC_000006.12:36096065:T:C
Gene:: MAPK14 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36096066T>C, NC_000006.11:g.36063843T>C, XM_011514310.4:c.885T>C, XM_011514310.3:c.885T>C, XM_011514310.2:c.885T>C, XM_011514310.1:c.687T>C, XM_006714998.4:c.531T>C, XM_006714998.3:c.531T>C, XM_006714998.2:c.531T>C, XM_006714998.1:c.531T>C, NM_139012.3:c.762T>C, NM_139012.2:c.762T>C, NM_139014.3:c.762T>C, NM_139014.2:c.762T>C, XM_017010299.3:c.762T>C, XM_017010299.2:c.762T>C, XM_017010299.1:c.762T>C, XR_926065.3:n.1465T>C, XR_926065.2:n.1521T>C, XR_926065.1:n.1638T>C, NM_139013.3:c.762T>C, NM_139013.2:c.762T>C, XR_007059209.1:n.8194T>C, XM_047418237.1:c.531T>C, XM_047418235.1:c.885T>C, XM_047418233.1:c.885T>C, XR_007059210.1:n.1590T>C, XR_007059211.1:n.1502T>C, XM_047418236.1:c.885T>C

Select item 139737611414.

rs1397376114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36028399 (GRCh38)
6:35996176 (GRCh37)
Canonical SPDI:: NC_000006.12:36028398:C:T
Gene:: MAPK14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.36028399C>T, NC_000006.11:g.35996176C>T, NG_033897.1:g.1238G>A, XM_011514310.4:c.139C>T, XM_011514310.3:c.139C>T, XM_011514310.2:c.139C>T, XR_007059209.1:n.592C>T, XM_047418232.1:c.139C>T, XM_047418234.1:c.139C>T, XM_047418235.1:c.139C>T, XM_047418233.1:c.139C>T, XR_007059210.1:n.592C>T, XM_047418236.1:c.139C>T, XP_011512612.2:p.Pro47Ser, XP_047274188.1:p.Pro47Ser, XP_047274190.1:p.Pro47Ser, XP_047274191.1:p.Pro47Ser, XP_047274189.1:p.Pro47Ser, XP_047274192.1:p.Pro47Ser

Select item 138333030715.

rs1383330307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:36052700 (GRCh38)
6:36020477 (GRCh37)
Canonical SPDI:: NC_000006.12:36052699:G:T
Gene:: MAPK14 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.36052700G>T, NC_000006.11:g.36020477G>T, XM_011514310.4:c.241G>T, XM_011514310.3:c.241G>T, XM_011514310.2:c.241G>T, XM_011514310.1:c.43G>T, XM_006714998.4:c.-114G>T, XM_006714998.3:c.-114G>T, XM_006714998.2:c.-114G>T, XM_006714998.1:c.-114G>T, NM_139012.3:c.118G>T, NM_139012.2:c.118G>T, NM_001315.3:c.118G>T, NM_001315.2:c.118G>T, NM_139014.3:c.118G>T, NM_139014.2:c.118G>T, XM_017010299.3:c.118G>T, XM_017010299.2:c.118G>T, XM_017010299.1:c.118G>T, XM_017010300.3:c.118G>T, XM_017010300.2:c.118G>T, XM_017010300.1:c.118G>T, XR_926065.3:n.468G>T, XR_926065.2:n.524G>T, XR_926065.1:n.641G>T, NM_139013.3:c.118G>T, NM_139013.2:c.118G>T, XR_007059209.1:n.694G>T, XM_047418232.1:c.241G>T, XM_047418237.1:c.-114G>T, XM_047418234.1:c.241G>T, XM_047418235.1:c.241G>T, XM_047418233.1:c.241G>T, XR_007059210.1:n.694G>T, XR_007059211.1:n.468G>T, XM_047418236.1:c.241G>T, XP_011512612.2:p.Ala81Ser, NP_620581.1:p.Ala40Ser, NP_001306.1:p.Ala40Ser, NP_620583.1:p.Ala40Ser, XP_016865788.1:p.Ala40Ser, XP_016865789.1:p.Ala40Ser, NP_620582.1:p.Ala40Ser, XP_047274188.1:p.Ala81Ser, XP_047274190.1:p.Ala81Ser, XP_047274191.1:p.Ala81Ser, XP_047274189.1:p.Ala81Ser, XP_047274192.1:p.Ala81Ser

Select item 138082052316.

rs1380820523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36028314 (GRCh38)
6:35996091 (GRCh37)
Canonical SPDI:: NC_000006.12:36028313:C:T
Gene:: MAPK14 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.36028314C>T, NC_000006.11:g.35996091C>T, NG_033897.1:g.1323G>A, XM_011514310.4:c.54C>T, XM_011514310.3:c.54C>T, XM_011514310.2:c.54C>T, XR_007059209.1:n.507C>T, XM_047418232.1:c.54C>T, XM_047418234.1:c.54C>T, XM_047418235.1:c.54C>T, XM_047418233.1:c.54C>T, XR_007059210.1:n.507C>T, XM_047418236.1:c.54C>T

Select item 137423473017.

rs1374234730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36096059 (GRCh38)
6:36063836 (GRCh37)
Canonical SPDI:: NC_000006.12:36096058:C:T
Gene:: MAPK14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36096059C>T, NC_000006.11:g.36063836C>T, XM_011514310.4:c.878C>T, XM_011514310.3:c.878C>T, XM_011514310.2:c.878C>T, XM_011514310.1:c.680C>T, XM_006714998.4:c.524C>T, XM_006714998.3:c.524C>T, XM_006714998.2:c.524C>T, XM_006714998.1:c.524C>T, NM_139012.3:c.755C>T, NM_139012.2:c.755C>T, NM_139014.3:c.755C>T, NM_139014.2:c.755C>T, XM_017010299.3:c.755C>T, XM_017010299.2:c.755C>T, XM_017010299.1:c.755C>T, XR_926065.3:n.1458C>T, XR_926065.2:n.1514C>T, XR_926065.1:n.1631C>T, NM_139013.3:c.755C>T, NM_139013.2:c.755C>T, XR_007059209.1:n.8187C>T, XM_047418237.1:c.524C>T, XM_047418235.1:c.878C>T, XM_047418233.1:c.878C>T, XR_007059210.1:n.1583C>T, XR_007059211.1:n.1495C>T, XM_047418236.1:c.878C>T, XP_011512612.2:p.Ser293Leu, XP_006715061.1:p.Ser175Leu, NP_620581.1:p.Ser252Leu, NP_620583.1:p.Ser252Leu, XP_016865788.1:p.Ser252Leu, NP_620582.1:p.Ser252Leu, XP_047274193.1:p.Ser175Leu, XP_047274191.1:p.Ser293Leu, XP_047274189.1:p.Ser293Leu, XP_047274192.1:p.Ser293Leu

Select item 137304336918.

rs1373043369 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:36052773 (GRCh38)
6:36020550 (GRCh37)
Canonical SPDI:: NC_000006.12:36052772:A:C
Gene:: MAPK14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36052773A>C, NC_000006.11:g.36020550A>C, XM_011514310.4:c.314A>C, XM_011514310.3:c.314A>C, XM_011514310.2:c.314A>C, XM_011514310.1:c.116A>C, XM_006714998.4:c.-41A>C, XM_006714998.3:c.-41A>C, XM_006714998.2:c.-41A>C, XM_006714998.1:c.-41A>C, NM_139012.3:c.191A>C, NM_139012.2:c.191A>C, NM_001315.3:c.191A>C, NM_001315.2:c.191A>C, NM_139014.3:c.191A>C, NM_139014.2:c.191A>C, XM_017010299.3:c.191A>C, XM_017010299.2:c.191A>C, XM_017010299.1:c.191A>C, XM_017010300.3:c.191A>C, XM_017010300.2:c.191A>C, XM_017010300.1:c.191A>C, XR_926065.3:n.541A>C, XR_926065.2:n.597A>C, XR_926065.1:n.714A>C, NM_139013.3:c.191A>C, NM_139013.2:c.191A>C, XR_007059209.1:n.767A>C, XM_047418232.1:c.314A>C, XM_047418237.1:c.-41A>C, XM_047418234.1:c.314A>C, XM_047418235.1:c.314A>C, XM_047418233.1:c.314A>C, XR_007059210.1:n.767A>C, XR_007059211.1:n.541A>C, XM_047418236.1:c.314A>C, XP_011512612.2:p.His105Pro, NP_620581.1:p.His64Pro, NP_001306.1:p.His64Pro, NP_620583.1:p.His64Pro, XP_016865788.1:p.His64Pro, XP_016865789.1:p.His64Pro, NP_620582.1:p.His64Pro, XP_047274188.1:p.His105Pro, XP_047274190.1:p.His105Pro, XP_047274191.1:p.His105Pro, XP_047274189.1:p.His105Pro, XP_047274192.1:p.His105Pro

Select item 137209947519.

rs1372099475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:36028361 (GRCh38)
6:35996138 (GRCh37)
Canonical SPDI:: NC_000006.12:36028360:C:G
Gene:: MAPK14 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000071/1 (TOMMO)
G=0.001027/3 (KOREAN)
G=0.002183/4 (Korea1K)
HGVS:: NC_000006.12:g.36028361C>G, NC_000006.11:g.35996138C>G, NG_033897.1:g.1276G>C, XM_011514310.4:c.101C>G, XM_011514310.3:c.101C>G, XM_011514310.2:c.101C>G, XR_007059209.1:n.554C>G, XM_047418232.1:c.101C>G, XM_047418234.1:c.101C>G, XM_047418235.1:c.101C>G, XM_047418233.1:c.101C>G, XR_007059210.1:n.554C>G, XM_047418236.1:c.101C>G, XP_011512612.2:p.Ser34Ter, XP_047274188.1:p.Ser34Ter, XP_047274190.1:p.Ser34Ter, XP_047274191.1:p.Ser34Ter, XP_047274189.1:p.Ser34Ter, XP_047274192.1:p.Ser34Ter

Select item 136964287720.

rs1369642877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:36108413 (GRCh38)
6:36076190 (GRCh37)
Canonical SPDI:: NC_000006.12:36108412:C:A
Gene:: MAPK14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.36108413C>A, NC_000006.11:g.36076190C>A, XM_011514310.4:c.1172C>A, XM_011514310.3:c.1172C>A, XM_011514310.2:c.1172C>A, XM_011514310.1:c.974C>A, XM_006714998.4:c.818C>A, XM_006714998.3:c.818C>A, XM_006714998.2:c.818C>A, XM_006714998.1:c.818C>A, NM_139012.3:c.1049C>A, NM_139012.2:c.1049C>A, NM_001315.3:c.1049C>A, NM_001315.2:c.1049C>A, NM_139014.3:c.*46C>A, NM_139014.2:c.*46C>A, XM_047418232.1:c.1172C>A, XM_047418237.1:c.818C>A, XP_011512612.2:p.Pro391Gln, XP_006715061.1:p.Pro273Gln, NP_620581.1:p.Pro350Gln, NP_001306.1:p.Pro350Gln, XP_047274188.1:p.Pro391Gln, XP_047274193.1:p.Pro273Gln

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