Linked Data
dbSNP Id:
rs12194974
gnomAD v2:
6-105404198-G-A
gnomAD v3:
6-104956323-G-A
gnomAD v4:
6-104956323-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.104956323G>A , CM000668.2:g.104956323G>A | GRCh38 |
| NC_000006.11:g.105404198G>A , CM000668.1:g.105404198G>A | GRCh37 |
| NC_000006.10:g.105510891G>A | NCBI36 |
| NG_032815.1:g.4276G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000635857.1:c.68-1776G>A | ENSP00000489735.1:n.68-1776G>A | |
| ENST00000637759.1:c.35-1776G>A | ENSP00000490468.1:n.35-1776G>A | |
| XM_006715477.2:c.68-1776G>A | XP_006715540.2:n.68-1776G>A | |
| XM_011535818.1:c.35-1776G>A | XP_011534120.1:n.35-1776G>A | |
| XM_011535818.3:c.35-1776G>A | XP_011534120.1:n.35-1776G>A |