Linked Data
dbSNP Id:
rs781443488
ExAC:
6:31583907 G / A
gnomAD v2:
6-31583907-G-A
gnomAD v3:
6-31616130-G-A
gnomAD v4:
6-31616130-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31616130G>A , CM000668.2:g.31616130G>A | GRCh38 |
| NC_000006.11:g.31583907G>A , CM000668.1:g.31583907G>A | GRCh37 |
| NC_000006.10:g.31691886G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376059.8:c.181G>A MANE Select | ENSP00000365227.3:p.Gly61Arg | |
| ENST00000337917.11:c.223G>A | ENSP00000338776.7:p.Gly75Arg | |
| ENST00000376049.4:c.19G>A | ENSP00000365217.4:p.Gly7Arg | |
| ENST00000376059.7:c.181G>A | ENSP00000365227.3:p.Gly61Arg | |
| ENST00000466820.1:n.598G>A | ||
| ENST00000497362.5:n.600G>A | ||
| NM_001623.3:c.181G>A | NP_001614.3:p.Gly61Arg | |
| NM_004847.3:c.19G>A | NP_004838.1:p.Gly7Arg | |
| NM_032955.1:c.19G>A | NP_116573.1:p.Gly7Arg | |
| XM_005248870.3:c.181G>A | XP_005248927.1:p.Gly61Arg | |
| XM_005248871.1:c.244G>A | XP_005248928.1:p.Gly82Arg | |
| NM_001318970.1:c.19G>A | NP_001305899.1:p.Gly7Arg | |
| NM_001623.4:c.181G>A | NP_001614.3:p.Gly61Arg | |
| NM_032955.2:c.19G>A | NP_116573.1:p.Gly7Arg | |
| XM_005248870.4:c.181G>A | XP_005248927.1:p.Gly61Arg | |
| XM_017010332.1:c.19G>A | XP_016865821.1:p.Gly7Arg | |
| NM_001623.5:c.181G>A MANE Select | NP_001614.3:p.Gly61Arg | |
| NM_001318970.2:c.19G>A | NP_001305899.1:p.Gly7Arg | |
| NM_032955.3:c.19G>A | NP_116573.1:p.Gly7Arg |