Linked Data
ClinVar Variation Id:
14630
dbSNP Id:
rs11554495
ExAC:
12:53298582 C / A
gnomAD v2:
12-53298582-C-A
gnomAD v3:
12-52904798-C-A
gnomAD v4:
12-52904798-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52904798C>A , CM000674.2:g.52904798C>A | GRCh38 |
| NC_000012.11:g.53298582C>A , CM000674.1:g.53298582C>A | GRCh37 |
| NC_000012.10:g.51584849C>A | NCBI36 |
| NG_008402.1:g.5287G>T | |
| NG_008402.2:g.50069G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000692008.1:c.184G>T MANE Select | ENSP00000509398.1:p.Gly62Cys | |
| ENST00000293308.11:c.184G>T | ENSP00000293308.6:p.Gly62Cys | |
| ENST00000546542.1:c.418G>T | ENSP00000450228.1:p.Gly140Cys | |
| ENST00000546583.5:n.255G>T | ||
| ENST00000546826.5:c.184G>T | ENSP00000447881.1:p.Gly62Cys | |
| ENST00000546897.5:c.184G>T | ENSP00000447402.1:p.Gly62Cys | |
| ENST00000548998.5:c.304G>T | ENSP00000447040.1:p.Gly102Cys | |
| ENST00000550170.5:n.247G>T | ||
| ENST00000552150.5:c.268G>T | ENSP00000449404.1:p.Gly90Cys | |
| ENST00000552551.5:c.184G>T | ENSP00000447566.1:p.Gly62Cys | |
| NM_001256282.1:c.268G>T | NP_001243211.1:p.Gly90Cys | |
| NM_001256293.1:c.184G>T | NP_001243222.1:p.Gly62Cys | |
| NM_002273.3:c.184G>T | NP_002264.1:p.Gly62Cys | |
| NR_045962.1:n.641G>T | ||
| NM_001256282.2:c.268G>T | NP_001243211.1:p.Gly90Cys | |
| NM_001256293.2:c.184G>T | NP_001243222.1:p.Gly62Cys | |
| NM_002273.4:c.184G>T MANE Select | NP_002264.1:p.Gly62Cys | |
| NR_045962.2:n.635G>T |