Linked Data
dbSNP Id:
rs527879586
ExAC:
7:155604573 G / A
gnomAD v2:
7-155604573-G-A
gnomAD v3:
7-155811879-G-A
gnomAD v4:
7-155811879-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155811879G>A , CM000669.2:g.155811879G>A | GRCh38 |
| NC_000007.13:g.155604573G>A , CM000669.1:g.155604573G>A | GRCh37 |
| NC_000007.12:g.155297334G>A | NCBI36 |
| NG_007504.2:g.5395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.244C>T MANE Select | ENSP00000297261.2:p.Pro82Ser | |
| ENST00000297261.6:c.244C>T | ENSP00000297261.2:p.Pro82Ser | |
| NM_000193.2:c.244C>T | NP_000184.1:p.Pro82Ser | |
| NM_000193.3:c.244C>T | NP_000184.1:p.Pro82Ser | |
| NM_000193.4:c.244C>T MANE Select | NP_000184.1:p.Pro82Ser |