Linked Data
dbSNP Id:
rs373150139
ExAC:
1:59248035 G / A
gnomAD v2:
1-59248035-G-A
gnomAD v3:
1-58782363-G-A
gnomAD v4:
1-58782363-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782363G>A , CM000663.2:g.58782363G>A | GRCh38 |
| NC_000001.10:g.59248035G>A , CM000663.1:g.59248035G>A | GRCh37 |
| NC_000001.9:g.59020623G>A | NCBI36 |
| NG_047027.1:g.6751C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.774C>T | ENSP00000518166.1:p.Pro258= | |
| ENST00000371222.4:c.708C>T MANE Select | ENSP00000360266.2:p.Pro236= | |
| ENST00000678696.1:c.708C>T | ENSP00000503132.1:p.Pro236= | |
| ENST00000371222.3:c.708C>T | ENSP00000360266.2:p.Pro236= | |
| NM_002228.3:c.708C>T | NP_002219.1:p.Pro236= | |
| NM_002228.4:c.708C>T MANE Select | NP_002219.1:p.Pro236= |