Linked Data
ClinVar Variation Id:
214615
dbSNP Id:
rs199706677
ExAC:
2:44145469 G / A
gnomAD v2:
2-44145469-G-A
gnomAD v3:
2-43918330-G-A
gnomAD v4:
2-43918330-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918330G>A , CM000664.2:g.43918330G>A | GRCh38 |
| NC_000002.11:g.44145469G>A , CM000664.1:g.44145469G>A | GRCh37 |
| NC_000002.10:g.43998973G>A | NCBI36 |
| NG_008247.1:g.82676C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681993.1:n.517C>T | ||
| ENST00000682295.1:c.229C>T | ENSP00000507499.1:p.Arg77Cys | |
| ENST00000682303.1:c.*2751C>T | ENSP00000508325.1:n.*2751C>T | |
| ENST00000682308.1:c.2965C>T | ENSP00000507056.1:p.Arg989Cys | |
| ENST00000682480.1:c.2965C>T | ENSP00000508344.1:p.Arg989Cys | |
| ENST00000682546.1:c.2962C>T | ENSP00000508188.1:p.Arg988Cys | |
| ENST00000682585.1:c.2965C>T | ENSP00000506885.1:p.Arg989Cys | |
| ENST00000682595.1:n.3549C>T | ||
| ENST00000682607.1:c.1383C>T | ||
| ENST00000682779.1:c.2956C>T | ENSP00000507947.1:p.Arg986Cys | |
| ENST00000682845.1:n.2067C>T | ||
| ENST00000682885.1:c.2920C>T | ENSP00000508036.1:p.Arg974Cys | |
| ENST00000682933.1:n.3039C>T | ||
| ENST00000683072.1:n.3549C>T | ||
| ENST00000683080.1:n.584C>T | ||
| ENST00000683125.1:c.3073C>T | ENSP00000507939.1:p.Arg1025Cys | |
| ENST00000683213.1:c.2968C>T | ENSP00000507751.1:p.Arg990Cys | |
| ENST00000683220.1:c.2995C>T | ENSP00000507151.1:p.Arg999Cys | |
| ENST00000683236.1:c.295C>T | ENSP00000506891.1:n.295C>T | |
| ENST00000683329.1:n.3768C>T | ||
| ENST00000683346.1:c.*2840C>T | ENSP00000507458.1:n.*2840C>T | |
| ENST00000683409.1:n.1572C>T | ||
| ENST00000683459.1:n.3552C>T | ||
| ENST00000683590.1:c.2897-5772C>T | ENSP00000506820.1:n.2897-5772C>T | |
| ENST00000683623.1:c.2872C>T | ENSP00000507702.1:p.Arg958Cys | |
| ENST00000683645.1:n.3516C>T | ||
| ENST00000683796.1:c.*2837C>T | ENSP00000508221.1:n.*2837C>T | |
| ENST00000683802.1:n.5890C>T | ||
| ENST00000683833.1:c.2956C>T | ENSP00000506852.1:p.Arg986Cys | |
| ENST00000683994.1:c.2965C>T | ENSP00000507181.1:p.Arg989Cys | |
| ENST00000684290.1:c.*501C>T | ENSP00000507243.1:n.*501C>T | |
| ENST00000684306.1:c.*2878C>T | ENSP00000508384.1:n.*2878C>T | |
| ENST00000684341.1:n.2985C>T | ||
| ENST00000684383.1:c.*2603C>T | ENSP00000506863.1:n.*2603C>T | |
| ENST00000684619.1:c.*2837C>T | ENSP00000508088.1:n.*2837C>T | |
| ENST00000684705.1:n.86C>T | ||
| ENST00000684743.1:n.3996C>T | ||
| ENST00000260665.12:c.2965C>T MANE Select | ENSP00000260665.7:p.Arg989Cys | |
| ENST00000260665.11:c.2965C>T | ENSP00000260665.7:p.Arg989Cys | |
| NM_133259.3:c.2965C>T | NP_573566.2:p.Arg989Cys | |
| XM_006711915.2:c.2887C>T | XP_006711978.1:p.Arg963Cys | |
| XM_006711916.2:c.2965C>T | XP_006711979.1:p.Arg989Cys | |
| XM_011532473.1:c.2965C>T | XP_011530775.1:p.Arg989Cys | |
| XM_011532474.1:c.2965C>T | XP_011530776.1:p.Arg989Cys | |
| XM_006711916.3:c.2965C>T | XP_006711979.1:p.Arg989Cys | |
| XM_017003117.1:c.2887C>T | XP_016858606.1:p.Arg963Cys | |
| XR_002958896.1:n.3007C>T | ||
| NM_133259.4:c.2965C>T MANE Select | NP_573566.2:p.Arg989Cys |