Linked Data
ClinVar Variation Id:
2054912
dbSNP Id:
rs748289202
ExAC:
1:11855183 G / A
gnomAD v2:
1-11855183-G-A
gnomAD v3:
1-11795126-G-A
gnomAD v4:
1-11795126-G-A
COSMIC:
COSM1639469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11795126G>A , CM000663.2:g.11795126G>A | GRCh38 |
| NC_000001.10:g.11855183G>A , CM000663.1:g.11855183G>A | GRCh37 |
| NC_000001.9:g.11777770G>A | NCBI36 |
| NG_013351.1:g.15978C>T , LRG_726:g.15978C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376585.6:c.1126C>T | ENSP00000365770.1:p.Arg376Cys | |
| ENST00000376590.9:c.1003C>T MANE Select | ENSP00000365775.3:p.Arg335Cys | |
| ENST00000376592.6:c.1003C>T | ENSP00000365777.1:p.Arg335Cys | |
| ENST00000423400.7:c.1123C>T | ENSP00000398908.3:p.Arg375Cys | |
| ENST00000641407.1:c.1003C>T | ENSP00000493098.1:p.Arg335Cys | |
| ENST00000641446.1:c.1003C>T | ENSP00000493262.1:p.Arg335Cys | |
| ENST00000641721.1:n.866C>T | ||
| ENST00000641747.1:c.*515C>T | ENSP00000493116.1:n.*515C>T | |
| ENST00000641759.1:n.1138C>T | ||
| ENST00000641805.1:n.1286C>T | ||
| ENST00000641820.1:c.268C>T | ENSP00000492937.1:p.Arg90Cys | |
| ENST00000376583.7:c.1126C>T | ENSP00000365767.3:p.Arg376Cys | |
| ENST00000376585.5:c.1126C>T | ENSP00000365770.1:p.Arg376Cys | |
| ENST00000376590.7:c.1003C>T | ENSP00000365775.3:p.Arg335Cys | |
| ENST00000376592.5:c.1003C>T | ENSP00000365777.1:p.Arg335Cys | |
| NM_005957.4:c.1003C>T , LRG_726t1:c.1003C>T | NP_005948.3:p.Arg335Cys | |
| XM_005263458.2:c.1126C>T | XP_005263515.1:p.Arg376Cys | |
| XM_005263460.3:c.1003C>T | XP_005263517.1:p.Arg335Cys | |
| XM_005263461.3:c.1003C>T | XP_005263518.1:p.Arg335Cys | |
| XM_005263462.3:c.1003C>T | XP_005263519.1:p.Arg335Cys | |
| XM_005263463.2:c.757C>T | XP_005263520.1:p.Arg253Cys | |
| XM_011541495.1:c.1123C>T | XP_011539797.1:p.Arg375Cys | |
| XM_011541496.1:c.1126C>T | XP_011539798.1:p.Arg376Cys | |
| NM_001330358.1:c.1126C>T | NP_001317287.1:p.Arg376Cys | |
| XM_005263460.5:c.1003C>T | XP_005263517.1:p.Arg335Cys | |
| XM_005263462.4:c.1003C>T | XP_005263519.1:p.Arg335Cys | |
| XM_005263463.4:c.757C>T | XP_005263520.1:p.Arg253Cys | |
| XM_011541495.3:c.1123C>T | XP_011539797.1:p.Arg375Cys | |
| XM_011541496.3:c.1126C>T | XP_011539798.1:p.Arg376Cys | |
| XM_017001328.2:c.1126C>T | XP_016856817.1:p.Arg376Cys | |
| XM_024447198.1:c.757C>T | XP_024302966.1:p.Arg253Cys | |
| XR_002956640.1:n.1870C>T | ||
| NM_005957.5:c.1003C>T MANE Select | NP_005948.3:p.Arg335Cys | |
| NM_001330358.2:c.1126C>T | NP_001317287.1:p.Arg376Cys |