SNP Links for Protein (Select 9790235) - SNP

Links from Protein

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Select item 14891179711.

rs1489117971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:33215860 (GRCh38)
19:33706766 (GRCh37)
Canonical SPDI:: NC_000019.10:33215859:C:T
Gene:: SLC7A10 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.33215860C>T, NC_000019.9:g.33706766C>T, NM_019849.3:c.265G>A, NM_019849.2:c.265G>A, XM_006723284.3:c.265G>A, XM_006723284.2:c.265G>A, XM_006723284.1:c.265G>A, XM_011527119.2:c.265G>A, XM_011527119.1:c.265G>A, XM_047439101.1:c.265G>A, NP_062823.1:p.Gly89Ser, XP_006723347.1:p.Gly89Ser, XP_011525421.1:p.Gly89Ser, XP_047295057.1:p.Gly89Ser

Select item 14887899142.

rs1488789914 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:33212951 (GRCh38)
19:33703857 (GRCh37)
Canonical SPDI:: NC_000019.10:33212950:A:G
Gene:: SLC7A10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33212951A>G, NC_000019.9:g.33703857A>G, NM_019849.3:c.408T>C, NM_019849.2:c.408T>C, XM_006723284.3:c.408T>C, XM_006723284.2:c.408T>C, XM_006723284.1:c.408T>C, XM_011527119.2:c.408T>C, XM_011527119.1:c.408T>C, XM_011527120.2:c.327T>C, XM_011527120.1:c.327T>C, XM_024451610.2:c.327T>C, XM_024451610.1:c.327T>C, XM_047439101.1:c.408T>C

Select item 14858545903.

rs1485854590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:33211415 (GRCh38)
19:33702321 (GRCh37)
Canonical SPDI:: NC_000019.10:33211414:A:G
Gene:: SLC7A10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33211415A>G, NC_000019.9:g.33702321A>G, NM_019849.3:c.911T>C, NM_019849.2:c.911T>C, XM_006723284.3:c.911T>C, XM_006723284.2:c.911T>C, XM_006723284.1:c.911T>C, XM_011527119.2:c.911T>C, XM_011527119.1:c.911T>C, XM_011527120.2:c.830T>C, XM_011527120.1:c.830T>C, XM_024451610.2:c.830T>C, XM_024451610.1:c.830T>C, XM_047439101.1:c.911T>C, NM_017965.1:c.41T>C, NP_062823.1:p.Val304Ala, XP_006723347.1:p.Val304Ala, XP_011525421.1:p.Val304Ala, XP_011525422.1:p.Val277Ala, XP_024307378.1:p.Val277Ala, XP_047295057.1:p.Val304Ala

Select item 14850570784.

rs1485057078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33212363 (GRCh38)
19:33703269 (GRCh37)
Canonical SPDI:: NC_000019.10:33212362:G:A
Gene:: SLC7A10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.33212363G>A, NC_000019.9:g.33703269G>A, NM_019849.3:c.717C>T, NM_019849.2:c.717C>T, XM_006723284.3:c.717C>T, XM_006723284.2:c.717C>T, XM_006723284.1:c.717C>T, XM_011527119.2:c.717C>T, XM_011527119.1:c.717C>T, XM_011527120.2:c.636C>T, XM_011527120.1:c.636C>T, XM_024451610.2:c.636C>T, XM_024451610.1:c.636C>T, XM_047439101.1:c.717C>T

Select item 14845530245.

rs1484553024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33209331 (GRCh38)
19:33700237 (GRCh37)
Canonical SPDI:: NC_000019.10:33209330:G:A
Gene:: LRP3 (Varview), SLC7A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00002/5 (GnomAD_exomes)
A=0.000076/20 (TOPMED)
A=0.000078/11 (GnomAD)
HGVS:: NC_000019.10:g.33209331G>A, NC_000019.9:g.33700237G>A, NM_019849.3:c.1418C>T, NM_019849.2:c.1418C>T, XM_006723284.3:c.1181C>T, XM_006723284.2:c.1181C>T, XM_006723284.1:c.1181C>T, XM_011527119.2:c.1829C>T, XM_011527119.1:c.1829C>T, XM_011527120.2:c.1748C>T, XM_011527120.1:c.1748C>T, XM_024451610.2:c.1337C>T, XM_024451610.1:c.1337C>T, NM_017965.1:c.959C>T, NP_062823.1:p.Pro473Leu, XP_006723347.1:p.Pro394Leu, XP_011525421.1:p.Pro610Leu, XP_011525422.1:p.Pro583Leu, XP_024307378.1:p.Pro446Leu

Select item 14840115426.

rs1484011542 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:33212962 (GRCh38)
19:33703868 (GRCh37)
Canonical SPDI:: NC_000019.10:33212961:T:G
Gene:: SLC7A10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33212962T>G, NC_000019.9:g.33703868T>G, NM_019849.3:c.397A>C, NM_019849.2:c.397A>C, XM_006723284.3:c.397A>C, XM_006723284.2:c.397A>C, XM_006723284.1:c.397A>C, XM_011527119.2:c.397A>C, XM_011527119.1:c.397A>C, XM_011527120.2:c.316A>C, XM_011527120.1:c.316A>C, XM_024451610.2:c.316A>C, XM_024451610.1:c.316A>C, XM_047439101.1:c.397A>C, NP_062823.1:p.Thr133Pro, XP_006723347.1:p.Thr133Pro, XP_011525421.1:p.Thr133Pro, XP_011525422.1:p.Thr106Pro, XP_024307378.1:p.Thr106Pro, XP_047295057.1:p.Thr133Pro

Select item 14826110597.

rs1482611059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:33210557 (GRCh38)
19:33701463 (GRCh37)
Canonical SPDI:: NC_000019.10:33210556:C:T
Gene:: SLC7A10 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.33210557C>T, NC_000019.9:g.33701463C>T, NM_019849.3:c.1173G>A, NM_019849.2:c.1173G>A, XM_011527119.2:c.1584G>A, XM_011527119.1:c.1584G>A, XM_011527120.2:c.1503G>A, XM_011527120.1:c.1503G>A, XM_024451610.2:c.1092G>A, XM_024451610.1:c.1092G>A, XM_047439101.1:c.1076G>A, NM_017965.1:c.714G>A, XP_047295057.1:p.Cys359Tyr

Select item 14808149588.

rs1480814958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:33210610 (GRCh38)
19:33701516 (GRCh37)
Canonical SPDI:: NC_000019.10:33210609:C:G,NC_000019.10:33210609:C:T
Gene:: SLC7A10 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0005/1 (Korea1K)
HGVS:: NC_000019.10:g.33210610C>G, NC_000019.10:g.33210610C>T, NC_000019.9:g.33701516C>G, NC_000019.9:g.33701516C>T, NM_019849.3:c.1120G>C, NM_019849.3:c.1120G>A, NM_019849.2:c.1120G>C, NM_019849.2:c.1120G>A, XM_011527119.2:c.1531G>C, XM_011527119.2:c.1531G>A, XM_011527119.1:c.1531G>C, XM_011527119.1:c.1531G>A, XM_011527120.2:c.1450G>C, XM_011527120.2:c.1450G>A, XM_011527120.1:c.1450G>C, XM_011527120.1:c.1450G>A, XM_024451610.2:c.1039G>C, XM_024451610.2:c.1039G>A, XM_024451610.1:c.1039G>C, XM_024451610.1:c.1039G>A, XM_047439101.1:c.1023G>C, XM_047439101.1:c.1023G>A, NM_017965.1:c.661G>C, NM_017965.1:c.661G>A, NP_062823.1:p.Ala374Pro, NP_062823.1:p.Ala374Thr, XP_011525421.1:p.Ala511Pro, XP_011525421.1:p.Ala511Thr, XP_011525422.1:p.Ala484Pro, XP_011525422.1:p.Ala484Thr, XP_024307378.1:p.Ala347Pro, XP_024307378.1:p.Ala347Thr

Select item 14801622359.

rs1480162235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33211273 (GRCh38)
19:33702179 (GRCh37)
Canonical SPDI:: NC_000019.10:33211272:G:A
Gene:: SLC7A10 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.33211273G>A, NC_000019.9:g.33702179G>A, NM_019849.3:c.968C>T, NM_019849.2:c.968C>T, XM_006723284.3:c.968C>T, XM_006723284.2:c.968C>T, XM_006723284.1:c.968C>T, XM_011527119.2:c.1053C>T, XM_011527119.1:c.1053C>T, XM_011527120.2:c.972C>T, XM_011527120.1:c.972C>T, XM_024451610.2:c.887C>T, XM_024451610.1:c.887C>T, XM_047439101.1:c.968C>T, NM_017965.1:c.183C>T, NP_062823.1:p.Ala323Val, XP_006723347.1:p.Ala323Val, XP_024307378.1:p.Ala296Val, XP_047295057.1:p.Ala323Val

Select item 147905928510.

rs1479059285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33210479 (GRCh38)
19:33701385 (GRCh37)
Canonical SPDI:: NC_000019.10:33210478:G:A
Gene:: SLC7A10 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.33210479G>A, NC_000019.9:g.33701385G>A, NM_019849.3:c.1251C>T, NM_019849.2:c.1251C>T, XM_011527119.2:c.1662C>T, XM_011527119.1:c.1662C>T, XM_011527120.2:c.1581C>T, XM_011527120.1:c.1581C>T, XM_024451610.2:c.1170C>T, XM_024451610.1:c.1170C>T, XM_047439101.1:c.1154C>T, NM_017965.1:c.792C>T, XP_047295057.1:p.Thr385Ile

Select item 147795548611.

rs1477955486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33212894 (GRCh38)
19:33703800 (GRCh37)
Canonical SPDI:: NC_000019.10:33212893:G:A
Gene:: SLC7A10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000071/2 (TOMMO)
HGVS:: NC_000019.10:g.33212894G>A, NC_000019.9:g.33703800G>A, NM_019849.3:c.465C>T, NM_019849.2:c.465C>T, XM_006723284.3:c.465C>T, XM_006723284.2:c.465C>T, XM_006723284.1:c.465C>T, XM_011527119.2:c.465C>T, XM_011527119.1:c.465C>T, XM_011527120.2:c.384C>T, XM_011527120.1:c.384C>T, XM_024451610.2:c.384C>T, XM_024451610.1:c.384C>T, XM_047439101.1:c.465C>T

Select item 147752166912.

rs1477521669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:33209398 (GRCh38)
19:33700304 (GRCh37)
Canonical SPDI:: NC_000019.10:33209397:C:T
Gene:: SLC7A10 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33209398C>T, NC_000019.9:g.33700304C>T, NM_019849.3:c.1351G>A, NM_019849.2:c.1351G>A, XM_006723284.3:c.1114G>A, XM_006723284.2:c.1114G>A, XM_006723284.1:c.1114G>A, XM_011527119.2:c.1762G>A, XM_011527119.1:c.1762G>A, XM_011527120.2:c.1681G>A, XM_011527120.1:c.1681G>A, XM_024451610.2:c.1270G>A, XM_024451610.1:c.1270G>A, XM_047439101.1:c.*84G>A, NM_017965.1:c.892G>A, NP_062823.1:p.Val451Ile, XP_006723347.1:p.Val372Ile, XP_011525421.1:p.Val588Ile, XP_011525422.1:p.Val561Ile, XP_024307378.1:p.Val424Ile

Select item 147698449113.

rs1476984491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33215804 (GRCh38)
19:33706710 (GRCh37)
Canonical SPDI:: NC_000019.10:33215803:G:A
Gene:: SLC7A10 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000011/2 (GnomAD_exomes)
A=0.00006/1 (TOMMO)
HGVS:: NC_000019.10:g.33215804G>A, NC_000019.9:g.33706710G>A, NM_019849.3:c.321C>T, NM_019849.2:c.321C>T, XM_006723284.3:c.321C>T, XM_006723284.2:c.321C>T, XM_006723284.1:c.321C>T, XM_011527119.2:c.321C>T, XM_011527119.1:c.321C>T, XM_047439101.1:c.321C>T

Select item 147599824614.

rs1475998246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:33211508 (GRCh38)
19:33702414 (GRCh37)
Canonical SPDI:: NC_000019.10:33211507:A:T
Gene:: SLC7A10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33211508A>T, NC_000019.9:g.33702414A>T, NM_019849.3:c.818T>A, NM_019849.2:c.818T>A, XM_006723284.3:c.818T>A, XM_006723284.2:c.818T>A, XM_006723284.1:c.818T>A, XM_011527119.2:c.818T>A, XM_011527119.1:c.818T>A, XM_011527120.2:c.737T>A, XM_011527120.1:c.737T>A, XM_024451610.2:c.737T>A, XM_024451610.1:c.737T>A, XM_047439101.1:c.818T>A, NM_017965.1:c.-53T>A, NP_062823.1:p.Ile273Asn, XP_006723347.1:p.Ile273Asn, XP_011525421.1:p.Ile273Asn, XP_011525422.1:p.Ile246Asn, XP_024307378.1:p.Ile246Asn, XP_047295057.1:p.Ile273Asn

Select item 147090463415.

rs1470904634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33209376 (GRCh38)
19:33700282 (GRCh37)
Canonical SPDI:: NC_000019.10:33209375:G:A
Gene:: SLC7A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.33209376G>A, NC_000019.9:g.33700282G>A, NM_019849.3:c.1373C>T, NM_019849.2:c.1373C>T, XM_006723284.3:c.1136C>T, XM_006723284.2:c.1136C>T, XM_006723284.1:c.1136C>T, XM_011527119.2:c.1784C>T, XM_011527119.1:c.1784C>T, XM_011527120.2:c.1703C>T, XM_011527120.1:c.1703C>T, XM_024451610.2:c.1292C>T, XM_024451610.1:c.1292C>T, NM_017965.1:c.914C>T, NP_062823.1:p.Thr458Met, XP_006723347.1:p.Thr379Met, XP_011525421.1:p.Thr595Met, XP_011525422.1:p.Thr568Met, XP_024307378.1:p.Thr431Met

Select item 146434498616.

rs1464344986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:33208929 (GRCh38)
19:33699835 (GRCh37)
Canonical SPDI:: NC_000019.10:33208928:G:C
Gene:: LRP3 (Varview), SLC7A10 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.33208929G>C, NC_000019.9:g.33699835G>C, NM_019849.3:c.1534C>G, NM_019849.2:c.1534C>G, XM_006723284.3:c.1297C>G, XM_006723284.2:c.1297C>G, XM_006723284.1:c.1297C>G, XM_011527119.2:c.1945C>G, XM_011527119.1:c.1945C>G, XM_011527120.2:c.1864C>G, XM_011527120.1:c.1864C>G, XM_024451610.2:c.1453C>G, XM_024451610.1:c.1453C>G, NM_017965.1:c.1075C>G, NP_062823.1:p.Leu512Val, XP_006723347.1:p.Leu433Val, XP_011525421.1:p.Leu649Val, XP_011525422.1:p.Leu622Val, XP_024307378.1:p.Leu485Val

Select item 146423563517.

rs1464235635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33215929 (GRCh38)
19:33706835 (GRCh37)
Canonical SPDI:: NC_000019.10:33215928:G:A
Gene:: SLC7A10 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33215929G>A, NC_000019.9:g.33706835G>A, NM_019849.3:c.196C>T, NM_019849.2:c.196C>T, XM_006723284.3:c.196C>T, XM_006723284.2:c.196C>T, XM_006723284.1:c.196C>T, XM_011527119.2:c.196C>T, XM_011527119.1:c.196C>T, XM_047439101.1:c.196C>T

Select item 145938680918.

rs1459386809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:33212853 (GRCh38)
19:33703759 (GRCh37)
Canonical SPDI:: NC_000019.10:33212852:A:G
Gene:: SLC7A10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33212853A>G, NC_000019.9:g.33703759A>G, NM_019849.3:c.506T>C, NM_019849.2:c.506T>C, XM_006723284.3:c.506T>C, XM_006723284.2:c.506T>C, XM_006723284.1:c.506T>C, XM_011527119.2:c.506T>C, XM_011527119.1:c.506T>C, XM_011527120.2:c.425T>C, XM_011527120.1:c.425T>C, XM_024451610.2:c.425T>C, XM_024451610.1:c.425T>C, XM_047439101.1:c.506T>C, NP_062823.1:p.Leu169Pro, XP_006723347.1:p.Leu169Pro, XP_011525421.1:p.Leu169Pro, XP_011525422.1:p.Leu142Pro, XP_024307378.1:p.Leu142Pro, XP_047295057.1:p.Leu169Pro

Select item 145536334519.

rs1455363345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33211230 (GRCh38)
19:33702136 (GRCh37)
Canonical SPDI:: NC_000019.10:33211229:G:A
Gene:: SLC7A10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33211230G>A, NC_000019.9:g.33702136G>A, NM_019849.3:c.1011C>T, NM_019849.2:c.1011C>T, XM_006723284.3:c.1011C>T, XM_006723284.2:c.1011C>T, XM_006723284.1:c.1011C>T, XM_011527119.2:c.1096C>T, XM_011527119.1:c.1096C>T, XM_011527120.2:c.1015C>T, XM_011527120.1:c.1015C>T, XM_024451610.2:c.930C>T, XM_024451610.1:c.930C>T, XM_047439101.1:c.1011C>T, NM_017965.1:c.226C>T, XP_011525421.1:p.Leu366Phe, XP_011525422.1:p.Leu339Phe

Select item 145275842820.

rs1452758428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:33212872 (GRCh38)
19:33703778 (GRCh37)
Canonical SPDI:: NC_000019.10:33212871:C:T
Gene:: SLC7A10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.33212872C>T, NC_000019.9:g.33703778C>T, NM_019849.3:c.487G>A, NM_019849.2:c.487G>A, XM_006723284.3:c.487G>A, XM_006723284.2:c.487G>A, XM_006723284.1:c.487G>A, XM_011527119.2:c.487G>A, XM_011527119.1:c.487G>A, XM_011527120.2:c.406G>A, XM_011527120.1:c.406G>A, XM_024451610.2:c.406G>A, XM_024451610.1:c.406G>A, XM_047439101.1:c.487G>A, NP_062823.1:p.Val163Met, XP_006723347.1:p.Val163Met, XP_011525421.1:p.Val163Met, XP_011525422.1:p.Val136Met, XP_024307378.1:p.Val136Met, XP_047295057.1:p.Val163Met

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