gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003252 (AFR)
Genomes Max Group AF
0.00003252 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206484465T>G , CM000663.2:g.206484465T>G | GRCh38 |
| NC_000001.10:g.206657802T>G , CM000663.1:g.206657802T>G | GRCh37 |
| NC_000001.9:g.204724425T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581977.7:c.1428-532T>G MANE Select | ENSP00000464030.1:n.1428-532T>G | |
| ENST00000578328.6:c.1428-532T>G | ENSP00000473833.1:n.1428-532T>G | |
| ENST00000581977.6:c.1428-532T>G | ENSP00000464030.1:n.1428-532T>G | |
| ENST00000584998.5:c.1173-532T>G | ENSP00000462396.1:n.1173-532T>G | |
| NM_001193321.1:c.1173-532T>G | NP_001180250.1:n.1173-532T>G | |
| NM_001193322.1:c.1428-532T>G | NP_001180251.1:n.1428-532T>G | |
| NM_014002.3:c.1428-532T>G | NP_054721.1:n.1428-532T>G | |
| XM_005273356.2:c.1428-532T>G | XP_005273413.1:n.1428-532T>G | |
| XR_922002.1:n.1802-532T>G | ||
| XM_017002868.1:c.1062-532T>G | XP_016858357.1:n.1062-532T>G | |
| XR_922002.2:n.1780-532T>G | ||
| NM_014002.4:c.1428-532T>G MANE Select | NP_054721.1:n.1428-532T>G | |
| NM_001193321.2:c.1173-532T>G | NP_001180250.1:n.1173-532T>G | |
| NM_001193322.2:c.1428-532T>G | NP_001180251.1:n.1428-532T>G |