ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00003232 (AMR)
Exomes Max Group AF
0.00004358 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45508974G>A , CM000663.2:g.45508974G>A | GRCh38 |
| NC_000001.10:g.45974646G>A , CM000663.1:g.45974646G>A | GRCh37 |
| NC_000001.9:g.45747233G>A | NCBI36 |
| NG_013378.1:g.13791G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.608G>A MANE Select | ENSP00000383840.4:p.Trp203Ter | |
| ENST00000401061.8:c.608G>A | ENSP00000383840.4:p.Trp203Ter | |
| ENST00000616135.1:c.437G>A | ENSP00000478859.1:p.Trp146Ter | |
| NM_015506.2:c.608G>A | NP_056321.2:p.Trp203Ter | |
| XM_005270724.3:c.413G>A | XP_005270781.1:p.Trp138Ter | |
| XM_011541204.1:c.437G>A | XP_011539506.1:p.Trp146Ter | |
| NM_001330540.1:c.437G>A | NP_001317469.1:p.Trp146Ter | |
| XM_005270724.5:c.413G>A | XP_005270781.1:p.Trp138Ter | |
| NM_015506.3:c.608G>A MANE Select | NP_056321.2:p.Trp203Ter | |
| NM_001330540.2:c.437G>A | NP_001317469.1:p.Trp146Ter |