Linked Data
ClinVar Variation Id:
1361588
ClinVar RCV Id:
RCV001931867
dbSNP Id:
rs527417380
gnomAD v3:
14-45154766-G-C
gnomAD v4:
14-45154766-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45154766G>C , CM000676.2:g.45154766G>C | GRCh38 |
| NC_000014.8:g.45623969G>C , CM000676.1:g.45623969G>C | GRCh37 |
| NC_000014.7:g.44693719G>C | NCBI36 |
| NG_007417.1:g.23834G>C , LRG_502:g.23834G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000556036.6:c.1253G>C | ENSP00000450596.1:p.Cys418Ser | |
| ENST00000556250.6:c.1253G>C | ENSP00000452033.2:p.Cys418Ser | |
| ENST00000696641.1:c.1094G>C | ENSP00000512774.1:p.Cys365Ser | |
| ENST00000696642.1:c.*64G>C | ENSP00000512775.1:n.*64G>C | |
| ENST00000696643.1:c.1253G>C | ENSP00000512776.1:p.Cys418Ser | |
| ENST00000696646.1:c.*64G>C | ENSP00000512777.1:n.*64G>C | |
| ENST00000696647.1:c.1253G>C | ENSP00000512778.1:p.Cys418Ser | |
| ENST00000696648.1:c.1253G>C | ENSP00000512779.1:p.Cys418Ser | |
| ENST00000696649.1:c.1253G>C | ENSP00000512780.1:p.Cys418Ser | |
| ENST00000696650.1:n.1201G>C | ||
| ENST00000696657.1:c.*471G>C | ENSP00000512784.1:n.*471G>C | |
| ENST00000696658.1:n.1803G>C | ||
| ENST00000696662.1:c.1175G>C | ENSP00000512788.1:p.Cys392Ser | |
| ENST00000696663.1:c.70G>C | ||
| ENST00000696664.1:c.70G>C | ||
| ENST00000696675.1:c.1253G>C | ENSP00000512799.1:p.Cys418Ser | |
| ENST00000696680.1:c.1121G>C | ENSP00000512803.1:p.Cys374Ser | |
| ENST00000696681.1:c.*64G>C | ENSP00000512804.1:n.*64G>C | |
| ENST00000696682.1:c.1253G>C | ENSP00000512805.1:p.Cys418Ser | |
| ENST00000696683.1:c.70G>C | ||
| ENST00000696684.1:c.70G>C | ||
| ENST00000696685.1:c.70G>C | ||
| ENST00000267430.10:c.1253G>C MANE Select | ENSP00000267430.5:p.Cys418Ser | |
| ENST00000267430.9:c.1253G>C | ENSP00000267430.5:p.Cys418Ser | |
| ENST00000542564.6:c.1175G>C | ENSP00000442493.2:p.Cys392Ser | |
| ENST00000556036.5:c.1253G>C | ENSP00000450596.1:p.Cys418Ser | |
| ENST00000556250.5:c.8G>C | ENSP00000452033.1:p.Cys3Ser | |
| NM_001308133.1:c.1175G>C | NP_001295062.1:p.Cys392Ser | |
| NM_001308134.1:c.1253G>C | NP_001295063.1:p.Cys418Ser | |
| NM_020937.2:c.1253G>C , LRG_502t1:c.1253G>C | NP_065988.1:p.Cys418Ser | |
| NM_020937.3:c.1253G>C | NP_065988.1:p.Cys418Ser | |
| XM_011537034.1:c.1253G>C | XP_011535336.1:p.Cys418Ser | |
| XM_011537035.1:c.1175G>C | XP_011535337.1:p.Cys392Ser | |
| XM_011537036.1:c.1253G>C | XP_011535338.1:p.Cys418Ser | |
| XM_011537034.2:c.1253G>C | XP_011535336.1:p.Cys418Ser | |
| XM_011537035.3:c.1175G>C | XP_011535337.1:p.Cys392Ser | |
| XM_017021523.1:c.1253G>C | XP_016877012.1:p.Cys418Ser | |
| XM_017021524.2:c.290G>C | XP_016877013.1:p.Cys97Ser | |
| XM_017021525.2:c.68G>C | XP_016877014.1:p.Cys23Ser | |
| XM_017021526.2:c.68G>C | XP_016877015.1:p.Cys23Ser | |
| XM_017021527.1:c.68G>C | XP_016877016.1:p.Cys23Ser | |
| XR_001750470.1:n.1345G>C | ||
| XR_001750471.2:n.1345G>C | ||
| XR_001750472.1:n.1345G>C | ||
| NM_020937.4:c.1253G>C MANE Select | NP_065988.1:p.Cys418Ser | |
| NM_001308133.2:c.1175G>C | NP_001295062.1:p.Cys392Ser | |
| NM_001308134.2:c.1253G>C | NP_001295063.1:p.Cys418Ser |