Linked Data
ClinVar Variation Id:
539293
dbSNP Id:
rs139547269
ExAC:
6:35434121 G / T
gnomAD v2:
6-35434121-G-T
gnomAD v3:
6-35466344-G-T
gnomAD v4:
6-35466344-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35466344G>T , CM000668.2:g.35466344G>T | GRCh38 |
| NC_000006.11:g.35434121G>T , CM000668.1:g.35434121G>T | GRCh37 |
| NC_000006.10:g.35542099G>T | NCBI36 |
| NG_011708.1:g.18984G>T , LRG_498:g.18984G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.1417G>T | ENSP00000512511.1:n.1417G>T | |
| ENST00000696265.1:c.1543G>T | ENSP00000512512.1:n.1543G>T | |
| ENST00000696266.1:c.1255G>T | ENSP00000512513.1:n.1255G>T | |
| ENST00000696267.1:n.1877G>T | ||
| ENST00000696269.1:n.1226G>T | ||
| ENST00000229769.3:c.1610G>T MANE Select | ENSP00000229769.2:p.Ter537Leu | |
| ENST00000648059.1:c.*231G>T | ENSP00000497902.1:n.*231G>T | |
| ENST00000229769.2:c.1610G>T | ENSP00000229769.2:p.Ter537Leu | |
| NM_021922.2:c.1610G>T , LRG_498t1:c.1610G>T | NP_068741.1:p.Ter537Leu | |
| XM_005248885.2:c.1589G>T | XP_005248942.1:p.Ter530Leu | |
| XM_005248886.2:c.1541G>T | XP_005248943.1:p.Ter514Leu | |
| XM_005248887.2:c.1484G>T | XP_005248944.1:p.Ter495Leu | |
| XM_005248888.2:c.*61G>T | XP_005248945.1:n.*61G>T | |
| XM_011514343.1:c.1316G>T | XP_011512645.1:p.Ter439Leu | |
| XM_011514344.1:c.1316G>T | XP_011512646.1:p.Ter439Leu | |
| XM_005248888.3:c.*61G>T | XP_005248945.1:n.*61G>T | |
| XM_011514343.2:c.1316G>T | XP_011512645.1:p.Ter439Leu | |
| XR_001743226.1:n.1750G>T | ||
| XR_002956267.1:n.2044G>T | ||
| NM_021922.3:c.1610G>T MANE Select | NP_068741.1:p.Ter537Leu |