gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113221363C>A , CM000664.2:g.113221363C>A | GRCh38 |
| NC_000002.11:g.113978940C>A , CM000664.1:g.113978940C>A | GRCh37 |
| NC_000002.10:g.113695411C>A | NCBI36 |
| NG_012384.1:g.62559G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468980.4:c.1001-1185G>T | ENSP00000451240.2:n.1001-1185G>T | |
| ENST00000429538.8:c.1190-1185G>T MANE Select | ENSP00000395498.3:n.1190-1185G>T | |
| ENST00000681162.1:c.1190-1185G>T | ENSP00000505425.1:n.1190-1185G>T | |
| ENST00000263334.9:c.1190-1185G>T | ENSP00000263334.6:n.1190-1185G>T | |
| ENST00000263335.11:c.880-1185G>T | ENSP00000263335.7:n.880-1185G>T | |
| ENST00000348715.9:c.1111-1185G>T | ENSP00000314750.5:n.1111-1185G>T | |
| ENST00000397647.7:c.778-1185G>T | ENSP00000380768.3:n.778-1185G>T | |
| ENST00000429538.7:c.1190-1185G>T | ENSP00000395498.3:n.1190-1185G>T | |
| ENST00000465084.1:c.209-1185G>T | ||
| ENST00000468980.3:c.357-1185G>T | ||
| ENST00000497038.6:c.95-1185G>T | ENSP00000451618.3:n.95-1185G>T | |
| NM_003466.3:c.1190-1185G>T | NP_003457.1:n.1190-1185G>T | |
| NM_013952.3:c.1111-1185G>T | NP_039246.1:n.1111-1185G>T | |
| NM_013953.3:c.880-1185G>T | NP_039247.1:n.880-1185G>T | |
| NM_013992.3:c.778-1185G>T | NP_054698.1:n.778-1185G>T | |
| XM_011511790.1:c.1361-1185G>T | XP_011510092.1:n.1361-1185G>T | |
| XM_011511791.1:c.1417-1185G>T | XP_011510093.1:n.1417-1185G>T | |
| XM_011511792.1:c.1282-1185G>T | XP_011510094.1:n.1282-1185G>T | |
| XM_011511793.1:c.1172-1185G>T | XP_011510095.1:n.1172-1185G>T | |
| XM_011511794.1:c.1001-1185G>T | XP_011510096.1:n.1001-1185G>T | |
| XR_923021.1:n.1365-1185G>T | ||
| NM_003466.4:c.1190-1185G>T MANE Select | NP_003457.1:n.1190-1185G>T | |
| NM_013952.4:c.1111-1185G>T | NP_039246.1:n.1111-1185G>T | |
| NM_013953.4:c.880-1185G>T | NP_039247.1:n.880-1185G>T | |
| NM_013992.4:c.778-1185G>T | NP_054698.1:n.778-1185G>T |