Linked Data
dbSNP Id:
rs747645686
ExAC:
11:2193042 G / A
gnomAD v2:
11-2193042-G-A
gnomAD v4:
11-2171812-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2171812G>A , CM000673.2:g.2171812G>A | GRCh38 |
| NC_000011.9:g.2193042G>A , CM000673.1:g.2193042G>A | GRCh37 |
| NC_000011.8:g.2149618G>A | NCBI36 |
| NG_008128.1:g.4994C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.-26C>T MANE Select | ENSP00000325951.4:n.-26C>T | |
| ENST00000352909.7:c.-26C>T | ENSP00000325951.3:n.-26C>T | |
| XM_011520335.1:c.-26C>T | XP_011518637.1:n.-26C>T | |
| XM_011520335.2:c.-26C>T | XP_011518637.1:n.-26C>T | |
| NM_000360.4:c.-26C>T MANE Select | NP_000351.2:n.-26C>T | |
| NM_199292.3:c.-26C>T | NP_954986.2:n.-26C>T | |
| NM_199293.3:c.-26C>T | NP_954987.2:n.-26C>T |