gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67543173T>G , CM000677.2:g.67543173T>G | GRCh38 |
| NC_000015.9:g.67835511T>G , CM000677.1:g.67835511T>G | GRCh37 |
| NC_000015.8:g.65622565T>G | NCBI36 |
| NG_029143.1:g.5491T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000178640.10:c.-163T>G MANE Select | ENSP00000178640.5:n.-163T>G | |
| ENST00000178640.9:c.-163T>G | ENSP00000178640.5:n.-163T>G | |
| NM_002757.3:c.-163T>G | NP_002748.1:n.-163T>G | |
| NM_145160.2:c.-163T>G | NP_660143.1:n.-163T>G | |
| XM_011521784.1:c.-163T>G | XP_011520086.1:n.-163T>G | |
| XM_011521785.1:c.-163T>G | XP_011520087.1:n.-163T>G | |
| XM_011521786.1:c.-163T>G | XP_011520088.1:n.-163T>G | |
| XM_011521787.1:c.-163T>G | XP_011520089.1:n.-163T>G | |
| XM_011521788.1:c.-163T>G | XP_011520090.1:n.-163T>G | |
| XM_011521787.3:c.-163T>G | XP_011520089.1:n.-163T>G | |
| XM_011521788.3:c.-163T>G | XP_011520090.1:n.-163T>G | |
| XM_017022414.2:c.-163T>G | XP_016877903.1:n.-163T>G | |
| XM_024449988.1:c.-801T>G | XP_024305756.1:n.-801T>G | |
| XR_001751355.2:n.489T>G | ||
| NM_145160.3:c.-163T>G MANE Select | NP_660143.1:n.-163T>G | |
| NM_002757.4:c.-163T>G | NP_002748.1:n.-163T>G |