Linked Data
ClinVar Variation Id:
526493
dbSNP Id:
rs746870942
ExAC:
14:45665719 T / C
gnomAD v2:
14-45665719-T-C
gnomAD v3:
14-45196516-T-C
gnomAD v4:
14-45196516-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45196516T>C , CM000676.2:g.45196516T>C | GRCh38 |
| NC_000014.8:g.45665719T>C , CM000676.1:g.45665719T>C | GRCh37 |
| NC_000014.7:g.44735469T>C | NCBI36 |
| NG_007417.1:g.65584T>C , LRG_502:g.65584T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554809.6:c.4002T>C | ENSP00000450632.2:p.Cys1334= | |
| ENST00000555484.2:c.1463T>C | ||
| ENST00000556250.6:c.5478T>C | ENSP00000452033.2:p.Cys1826= | |
| ENST00000557110.2:c.1463T>C | ||
| ENST00000696645.1:n.1575T>C | ||
| ENST00000696647.1:c.5341-2128T>C | ENSP00000512778.1:n.5341-2128T>C | |
| ENST00000696648.1:c.*3710T>C | ENSP00000512779.1:n.*3710T>C | |
| ENST00000696649.1:c.5529T>C | ENSP00000512780.1:p.Cys1843= | |
| ENST00000696651.1:n.2125T>C | ||
| ENST00000696659.1:c.3339-2128T>C | ||
| ENST00000696663.1:c.4616T>C | ||
| ENST00000696664.1:c.4517T>C | ||
| ENST00000696665.1:c.1463T>C | ||
| ENST00000696675.1:c.*1441T>C | ENSP00000512799.1:n.*1441T>C | |
| ENST00000696683.1:c.4313T>C | ||
| ENST00000696684.1:c.4158-3354T>C | ||
| ENST00000696685.1:c.4502T>C | ||
| ENST00000696686.1:n.2422T>C | ||
| ENST00000267430.10:c.5685T>C MANE Select | ENSP00000267430.5:p.Cys1895= | |
| ENST00000267430.9:c.5685T>C | ENSP00000267430.5:p.Cys1895= | |
| ENST00000542564.6:c.5607T>C | ENSP00000442493.2:p.Cys1869= | |
| ENST00000554809.5:c.2587T>C | ||
| ENST00000555484.1:c.63T>C | ENSP00000450797.1:p.Cys21= | |
| ENST00000556250.5:c.4233T>C | ENSP00000452033.1:p.Cys1411= | |
| ENST00000557110.1:c.345T>C | ENSP00000451846.1:p.Cys115= | |
| NM_001308133.1:c.5607T>C | NP_001295062.1:p.Cys1869= | |
| NM_020937.2:c.5685T>C , LRG_502t1:c.5685T>C | NP_065988.1:p.Cys1895= | |
| NM_020937.3:c.5685T>C | NP_065988.1:p.Cys1895= | |
| XM_011537034.1:c.5700T>C | XP_011535336.1:p.Cys1900= | |
| XM_011537035.1:c.5622T>C | XP_011535337.1:p.Cys1874= | |
| XM_011537036.1:c.5356-2128T>C | XP_011535338.1:n.5356-2128T>C | |
| XM_011537037.1:c.3714T>C | XP_011535339.1:p.Cys1238= | |
| XM_011537034.2:c.5700T>C | XP_011535336.1:p.Cys1900= | |
| XM_011537035.3:c.5622T>C | XP_011535337.1:p.Cys1874= | |
| XM_011537037.3:c.3714T>C | XP_011535339.1:p.Cys1238= | |
| XM_017021523.1:c.5356-3354T>C | XP_016877012.1:n.5356-3354T>C | |
| XM_017021524.2:c.4737T>C | XP_016877013.1:p.Cys1579= | |
| XM_017021525.2:c.4515T>C | XP_016877014.1:p.Cys1505= | |
| XM_017021526.2:c.4515T>C | XP_016877015.1:p.Cys1505= | |
| XM_017021527.1:c.4500T>C | XP_016877016.1:p.Cys1500= | |
| XR_001750470.1:n.5448-2128T>C | ||
| XR_001750471.2:n.5433-2128T>C | ||
| NM_020937.4:c.5685T>C MANE Select | NP_065988.1:p.Cys1895= | |
| NM_001308133.2:c.5607T>C | NP_001295062.1:p.Cys1869= |