SNP Links for Protein (Select 667667737) - SNP

Links from Protein

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Select item 14877746701.

rs1487774670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:141935827 (GRCh38)
7:141635627 (GRCh37)
Canonical SPDI:: NC_000007.14:141935826:G:A
Gene:: CLEC5A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
A=0.000248/4 (TOMMO)
HGVS:: NC_000007.14:g.141935827G>A, NC_000007.13:g.141635627G>A, NW_003571040.1:g.77778G>A, NM_013252.3:c.332C>T, NM_013252.2:c.332C>T, XM_011515995.3:c.203C>T, XM_011515995.2:c.203C>T, XM_011515995.1:c.203C>T, NM_001301167.2:c.263C>T, NM_001301167.1:c.263C>T, XR_007059995.1:n.520C>T, NP_037384.1:p.Thr111Met, XP_011514297.1:p.Thr68Met, NP_001288096.1:p.Thr88Met

Select item 14803443782.

rs1480344378 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:141931733 (GRCh38)
7:141631533 (GRCh37)
Canonical SPDI:: NC_000007.14:141931729:ACACA:ACA
Gene:: CLEC5A (Varview), LOC124901761 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000007.14:g.141931731CA[1], NC_000007.13:g.141631531CA[1], NW_003571040.1:g.73682CA[1], NM_013252.3:c.441_442del, NM_013252.2:c.441_442del, XM_011515995.3:c.312_313del, XM_011515995.2:c.312_313del, XM_011515995.1:c.312_313del, NM_001301167.2:c.372_373del, NM_001301167.1:c.372_373del, XR_007059995.1:n.627GT[1], XR_007060564.1:n.246CA[1], NP_037384.1:p.Phe148fs, XP_011514297.1:p.Phe105fs, NP_001288096.1:p.Phe125fs

Select item 14676252983.

rs1467625298 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:141930181 (GRCh38)
7:141629981 (GRCh37)
Canonical SPDI:: NC_000007.14:141930180:T:C
Gene:: CLEC5A (Varview), LOC124901761 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.141930181T>C, NC_000007.13:g.141629981T>C, NW_003571040.1:g.72132T>C, NM_013252.3:c.490A>G, NM_013252.2:c.490A>G, XM_011515995.3:c.361A>G, XM_011515995.2:c.361A>G, XM_011515995.1:c.361A>G, NM_001301167.2:c.421A>G, NM_001301167.1:c.421A>G, XR_007059995.1:n.678A>G, NP_037384.1:p.Ile164Val, XP_011514297.1:p.Ile121Val, NP_001288096.1:p.Ile141Val

Select item 14566943474.

rs1456694347 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:141931797 (GRCh38)
7:141631597 (GRCh37)
Canonical SPDI:: NC_000007.14:141931796:C:
Gene:: CLEC5A (Varview), LOC124901761 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.141931797del, NC_000007.13:g.141631597del, NW_003571040.1:g.73748del, NM_013252.3:c.375del, NM_013252.2:c.375del, XM_011515995.3:c.246del, XM_011515995.2:c.246del, XM_011515995.1:c.246del, NM_001301167.2:c.306del, NM_001301167.1:c.306del, XR_007059995.1:n.563del, XR_007060564.1:n.312del, NP_037384.1:p.Lys126fs, XP_011514297.1:p.Lys83fs, NP_001288096.1:p.Lys103fs

Select item 14483696405.

rs1448369640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:141931779 (GRCh38)
7:141631579 (GRCh37)
Canonical SPDI:: NC_000007.14:141931778:T:C
Gene:: CLEC5A (Varview), LOC124901761 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.141931779T>C, NC_000007.13:g.141631579T>C, NW_003571040.1:g.73730T>C, NM_013252.3:c.393A>G, NM_013252.2:c.393A>G, XM_011515995.3:c.264A>G, XM_011515995.2:c.264A>G, XM_011515995.1:c.264A>G, NM_001301167.2:c.324A>G, NM_001301167.1:c.324A>G, XR_007059995.1:n.581A>G, XR_007060564.1:n.294T>C

Select item 14279307626.

rs1427930762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:141945349 (GRCh38)
7:141645149 (GRCh37)
Canonical SPDI:: NC_000007.14:141945348:T:C
Gene:: CLEC5A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.141945349T>C, NC_000007.13:g.141645149T>C, NW_003571040.1:g.87300T>C, NM_013252.3:c.131A>G, NM_013252.2:c.131A>G, NM_001301167.2:c.131A>G, NM_001301167.1:c.131A>G, XR_007059995.1:n.319A>G, NP_037384.1:p.Tyr44Cys, NP_001288096.1:p.Tyr44Cys

Select item 14216648477.

rs1421664847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:141945352 (GRCh38)
7:141645152 (GRCh37)
Canonical SPDI:: NC_000007.14:141945351:C:A
Gene:: CLEC5A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.141945352C>A, NC_000007.13:g.141645152C>A, NW_003571040.1:g.87303C>A, NM_013252.3:c.128G>T, NM_013252.2:c.128G>T, NM_001301167.2:c.128G>T, NM_001301167.1:c.128G>T, XR_007059995.1:n.316G>T, NP_037384.1:p.Ser43Ile, NP_001288096.1:p.Ser43Ile

Select item 14186608268.

rs1418660826 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:141931816 (GRCh38)
7:141631616 (GRCh37)
Canonical SPDI:: NC_000007.14:141931815:T:C
Gene:: CLEC5A (Varview), LOC124901761 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.141931816T>C, NC_000007.13:g.141631616T>C, NW_003571040.1:g.73767T>C, NM_013252.3:c.356A>G, NM_013252.2:c.356A>G, XM_011515995.3:c.227A>G, XM_011515995.2:c.227A>G, XM_011515995.1:c.227A>G, NM_001301167.2:c.287A>G, NM_001301167.1:c.287A>G, XR_007059995.1:n.544A>G, XR_007060564.1:n.331T>C, NP_037384.1:p.Gln119Arg, XP_011514297.1:p.Gln76Arg, NP_001288096.1:p.Gln96Arg

Select item 14123104519.

rs1412310451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:141935914 (GRCh38)
7:141635714 (GRCh37)
Canonical SPDI:: NC_000007.14:141935913:C:T
Gene:: CLEC5A (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000007.14:g.141935914C>T, NC_000007.13:g.141635714C>T, NW_003571040.1:g.77865C>T, NM_013252.3:c.245G>A, NM_013252.2:c.245G>A, XM_011515995.3:c.116G>A, XM_011515995.2:c.116G>A, XM_011515995.1:c.116G>A, NM_001301167.2:c.176G>A, NM_001301167.1:c.176G>A, XR_007059995.1:n.433G>A, NP_037384.1:p.Cys82Tyr, XP_011514297.1:p.Cys39Tyr, NP_001288096.1:p.Cys59Tyr

Select item 140161266410.

rs1401612664 [Homo sapiens]

Variant type:: DEL
Alleles:: GCCAAT>- [Show Flanks]
Chromosome:: 7:141931782 (GRCh38)
7:141631582 (GRCh37)
Canonical SPDI:: NC_000007.14:141931781:GCCAAT:
Gene:: CLEC5A (Varview), LOC124901761 (Varview)
Functional Consequence:: inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.141931782_141931787del, NC_000007.13:g.141631582_141631587del, NW_003571040.1:g.73733_73738del, NM_013252.3:c.385_390del, NM_013252.2:c.385_390del, XM_011515995.3:c.256_261del, XM_011515995.2:c.256_261del, XM_011515995.1:c.256_261del, NM_001301167.2:c.316_321del, NM_001301167.1:c.316_321del, XR_007059995.1:n.573_578del, XR_007060564.1:n.297_302del, NP_037384.1:p.Ile129_Gly130del, XP_011514297.1:p.Ile86_Gly87del, NP_001288096.1:p.Ile106_Gly107del

Select item 139242360911.

rs1392423609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:141930138 (GRCh38)
7:141629938 (GRCh37)
Canonical SPDI:: NC_000007.14:141930137:C:G
Gene:: CLEC5A (Varview), LOC124901761 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.141930138C>G, NC_000007.13:g.141629938C>G, NW_003571040.1:g.72089C>G, NM_013252.3:c.533G>C, NM_013252.2:c.533G>C, XM_011515995.3:c.404G>C, XM_011515995.2:c.404G>C, XM_011515995.1:c.404G>C, NM_001301167.2:c.464G>C, NM_001301167.1:c.464G>C, XR_007059995.1:n.721G>C, NP_037384.1:p.Ser178Thr, XP_011514297.1:p.Ser135Thr, NP_001288096.1:p.Ser155Thr

Select item 138756120112.

rs1387561201 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 7:141935903 (GRCh38)
7:141635703 (GRCh37)
Canonical SPDI:: NC_000007.14:141935902:A:C,NC_000007.14:141935902:A:G,NC_000007.14:141935902:A:T
Gene:: CLEC5A (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00004/1 (ALFA)
HGVS:: NC_000007.14:g.141935903A>C, NC_000007.14:g.141935903A>G, NC_000007.14:g.141935903A>T, NC_000007.13:g.141635703A>C, NC_000007.13:g.141635703A>G, NC_000007.13:g.141635703A>T, NW_003571040.1:g.77854A>C, NW_003571040.1:g.77854A>G, NW_003571040.1:g.77854A>T, NM_013252.3:c.256T>G, NM_013252.3:c.256T>C, NM_013252.3:c.256T>A, NM_013252.2:c.256T>G, NM_013252.2:c.256T>C, NM_013252.2:c.256T>A, XM_011515995.3:c.127T>G, XM_011515995.3:c.127T>C, XM_011515995.3:c.127T>A, XM_011515995.2:c.127T>G, XM_011515995.2:c.127T>C, XM_011515995.2:c.127T>A, XM_011515995.1:c.127T>G, XM_011515995.1:c.127T>C, XM_011515995.1:c.127T>A, NM_001301167.2:c.187T>G, NM_001301167.2:c.187T>C, NM_001301167.2:c.187T>A, NM_001301167.1:c.187T>G, NM_001301167.1:c.187T>C, NM_001301167.1:c.187T>A, XR_007059995.1:n.444T>G, XR_007059995.1:n.444T>C, XR_007059995.1:n.444T>A, NP_037384.1:p.Ser86Ala, NP_037384.1:p.Ser86Pro, NP_037384.1:p.Ser86Thr, XP_011514297.1:p.Ser43Ala, XP_011514297.1:p.Ser43Pro, XP_011514297.1:p.Ser43Thr, NP_001288096.1:p.Ser63Ala, NP_001288096.1:p.Ser63Pro, NP_001288096.1:p.Ser63Thr

Select item 138203334713.

rs1382033347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:141946287 (GRCh38)
7:141646087 (GRCh37)
Canonical SPDI:: NC_000007.14:141946286:G:A,NC_000007.14:141946286:G:T
Gene:: CLEC5A (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.141946287G>A, NC_000007.14:g.141946287G>T, NC_000007.13:g.141646087G>A, NC_000007.13:g.141646087G>T, NW_003571040.1:g.88238G>A, NW_003571040.1:g.88238G>T, NM_013252.3:c.6C>T, NM_013252.3:c.6C>A, NM_013252.2:c.6C>T, NM_013252.2:c.6C>A, XM_011515995.3:c.6C>T, XM_011515995.3:c.6C>A, XM_011515995.2:c.6C>T, XM_011515995.2:c.6C>A, XM_011515995.1:c.6C>T, XM_011515995.1:c.6C>A, NM_001301167.2:c.6C>T, NM_001301167.2:c.6C>A, NM_001301167.1:c.6C>T, NM_001301167.1:c.6C>A, XR_007059995.1:n.194C>T, XR_007059995.1:n.194C>A, NP_037384.1:p.Asn2Lys, XP_011514297.1:p.Asn2Lys, NP_001288096.1:p.Asn2Lys

Select item 137061959814.

rs1370619598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:141931801 (GRCh38)
7:141631601 (GRCh37)
Canonical SPDI:: NC_000007.14:141931800:G:A
Gene:: CLEC5A (Varview), LOC124901761 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000007.14:g.141931801G>A, NC_000007.13:g.141631601G>A, NW_003571040.1:g.73752G>A, NM_013252.3:c.371C>T, NM_013252.2:c.371C>T, XM_011515995.3:c.242C>T, XM_011515995.2:c.242C>T, XM_011515995.1:c.242C>T, NM_001301167.2:c.302C>T, NM_001301167.1:c.302C>T, XR_007059995.1:n.559C>T, XR_007060564.1:n.316G>A, NP_037384.1:p.Ala124Val, XP_011514297.1:p.Ala81Val, NP_001288096.1:p.Ala101Val

Select item 136885269715.

rs1368852697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:141930210 (GRCh38)
7:141630010 (GRCh37)
Canonical SPDI:: NC_000007.14:141930209:T:C
Gene:: CLEC5A (Varview), LOC124901761 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.141930210T>C, NC_000007.13:g.141630010T>C, NW_003571040.1:g.72161T>C, NM_013252.3:c.461A>G, NM_013252.2:c.461A>G, XM_011515995.3:c.332A>G, XM_011515995.2:c.332A>G, XM_011515995.1:c.332A>G, NM_001301167.2:c.392A>G, NM_001301167.1:c.392A>G, XR_007059995.1:n.649A>G, NP_037384.1:p.Asn154Ser, XP_011514297.1:p.Asn111Ser, NP_001288096.1:p.Asn131Ser

Select item 132711506216.

rs1327115062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:141946260 (GRCh38)
7:141646060 (GRCh37)
Canonical SPDI:: NC_000007.14:141946259:A:C
Gene:: CLEC5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.141946260A>C, NC_000007.13:g.141646060A>C, NW_003571040.1:g.88211A>C, NM_013252.3:c.33T>G, NM_013252.2:c.33T>G, XM_011515995.3:c.33T>G, XM_011515995.2:c.33T>G, XM_011515995.1:c.33T>G, NM_001301167.2:c.33T>G, NM_001301167.1:c.33T>G, XR_007059995.1:n.221T>G, NP_037384.1:p.Ile11Met, XP_011514297.1:p.Ile11Met, NP_001288096.1:p.Ile11Met

Select item 131677151717.

rs1316771517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:141935842 (GRCh38)
7:141635642 (GRCh37)
Canonical SPDI:: NC_000007.14:141935841:A:C
Gene:: CLEC5A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.141935842A>C, NC_000007.13:g.141635642A>C, NW_003571040.1:g.77793A>C, NM_013252.3:c.317T>G, NM_013252.2:c.317T>G, XM_011515995.3:c.188T>G, XM_011515995.2:c.188T>G, XM_011515995.1:c.188T>G, NM_001301167.2:c.248T>G, NM_001301167.1:c.248T>G, XR_007059995.1:n.505T>G, NP_037384.1:p.Leu106Trp, XP_011514297.1:p.Leu63Trp, NP_001288096.1:p.Leu83Trp

Select item 130213024918.

rs1302130249 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:141946256 (GRCh38)
7:141646056 (GRCh37)
Canonical SPDI:: NC_000007.14:141946255:CC:C
Gene:: CLEC5A (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.141946257del, NC_000007.13:g.141646057del, NW_003571040.1:g.88208del, NM_013252.3:c.37del, NM_013252.2:c.37del, XM_011515995.3:c.37del, XM_011515995.2:c.37del, XM_011515995.1:c.37del, NM_001301167.2:c.37del, NM_001301167.1:c.37del, XR_007059995.1:n.225del, NP_037384.1:p.Val12_Val13insTer, XP_011514297.1:p.Val12_Val13insTer, NP_001288096.1:p.Val12_Val13insTer

Select item 128268906619.

rs1282689066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:141935872 (GRCh38)
7:141635672 (GRCh37)
Canonical SPDI:: NC_000007.14:141935871:C:T
Gene:: CLEC5A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.141935872C>T, NC_000007.13:g.141635672C>T, NW_003571040.1:g.77823C>T, NM_013252.3:c.287G>A, NM_013252.2:c.287G>A, XM_011515995.3:c.158G>A, XM_011515995.2:c.158G>A, XM_011515995.1:c.158G>A, NM_001301167.2:c.218G>A, NM_001301167.1:c.218G>A, XR_007059995.1:n.475G>A, NP_037384.1:p.Arg96Lys, XP_011514297.1:p.Arg53Lys, NP_001288096.1:p.Arg73Lys

Select item 125782957520.

rs1257829575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:141945394 (GRCh38)
7:141645194 (GRCh37)
Canonical SPDI:: NC_000007.14:141945393:T:C
Gene:: CLEC5A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.141945394T>C, NC_000007.13:g.141645194T>C, NW_003571040.1:g.87345T>C, NM_013252.3:c.86A>G, NM_013252.2:c.86A>G, NM_001301167.2:c.86A>G, NM_001301167.1:c.86A>G, XR_007059995.1:n.274A>G, NP_037384.1:p.Gln29Arg, NP_001288096.1:p.Gln29Arg

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