Linked Data
dbSNP Id:
rs10840491
ExAC:
11:2194390 G / A
gnomAD v2:
11-2194390-G-A
gnomAD v3:
11-2173160-G-A
gnomAD v4:
11-2173160-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2173160G>A , CM000673.2:g.2173160G>A | GRCh38 |
| NC_000011.9:g.2194390G>A , CM000673.1:g.2194390G>A | GRCh37 |
| NC_000011.8:g.2150966G>A | NCBI36 |
| NG_008128.1:g.3646C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011520335.2:c.-1374C>T | XP_011518637.1:n.-1374C>T |