Linked Data
ClinVar Variation Id:
907663
ClinVar RCV Id:
RCV001157664
dbSNP Id:
rs748817910
ExAC:
6:35423783 G / T
gnomAD v2:
6-35423783-G-T
gnomAD v4:
6-35456006-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35456006G>T , CM000668.2:g.35456006G>T | GRCh38 |
| NC_000006.11:g.35423783G>T , CM000668.1:g.35423783G>T | GRCh37 |
| NC_000006.10:g.35531761G>T | NCBI36 |
| NG_011708.1:g.8646G>T , LRG_498:g.8646G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.508G>T | ENSP00000512511.1:p.Gly170Trp | |
| ENST00000696265.1:c.508G>T | ENSP00000512512.1:p.Gly170Trp | |
| ENST00000696266.1:c.226G>T | ENSP00000512513.1:p.Gly76Trp | |
| ENST00000696267.1:n.148G>T | ||
| ENST00000229769.3:c.508G>T MANE Select | ENSP00000229769.2:p.Gly170Trp | |
| ENST00000648059.1:c.508G>T | ENSP00000497902.1:p.Gly170Trp | |
| ENST00000229769.2:c.508G>T | ENSP00000229769.2:p.Gly170Trp | |
| NM_021922.2:c.508G>T , LRG_498t1:c.508G>T | NP_068741.1:p.Gly170Trp | |
| XM_005248885.2:c.508G>T | XP_005248942.1:p.Gly170Trp | |
| XM_005248886.2:c.508G>T | XP_005248943.1:p.Gly170Trp | |
| XM_005248887.2:c.508G>T | XP_005248944.1:p.Gly170Trp | |
| XM_005248888.2:c.508G>T | XP_005248945.1:p.Gly170Trp | |
| XM_011514343.1:c.214G>T | XP_011512645.1:p.Gly72Trp | |
| XM_011514344.1:c.214G>T | XP_011512646.1:p.Gly72Trp | |
| XM_005248888.3:c.508G>T | XP_005248945.1:p.Gly170Trp | |
| XM_011514343.2:c.214G>T | XP_011512645.1:p.Gly72Trp | |
| XR_001743226.1:n.715G>T | ||
| XR_002956267.1:n.715G>T | ||
| NM_021922.3:c.508G>T MANE Select | NP_068741.1:p.Gly170Trp |