gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37424863G>A , CM000671.2:g.37424863G>A | GRCh38 |
| NC_000009.11:g.37424860G>A , CM000671.1:g.37424860G>A | GRCh37 |
| NC_000009.10:g.37414860G>A | NCBI36 |
| NG_008135.1:g.7154G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.102G>A MANE Select | ENSP00000313432.6:p.Trp34Ter | |
| ENST00000318158.10:c.102G>A | ENSP00000313432.6:p.Trp34Ter | |
| ENST00000377824.8:n.139G>A | ||
| ENST00000460882.5:n.129G>A | ||
| ENST00000487399.5:n.111G>A | ||
| ENST00000491488.5:n.109+2030G>A | ||
| ENST00000493368.5:n.159G>A | ||
| ENST00000607784.1:c.102G>A | ENSP00000475569.1:p.Trp34Ter | |
| NM_012203.1:c.102G>A | NP_036335.1:p.Trp34Ter | |
| XM_005251631.1:c.83+2030G>A | XP_005251688.1:n.83+2030G>A | |
| XM_011518073.1:c.-661G>A | XP_011516375.1:n.-661G>A | |
| XR_929374.1:n.187G>A | ||
| XM_017015320.2:c.102G>A | XP_016870809.1:p.Trp34Ter | |
| XM_017015321.2:c.102G>A | XP_016870810.1:p.Trp34Ter | |
| XM_017015323.2:c.-661G>A | XP_016870812.1:n.-661G>A | |
| XM_024447716.1:c.375G>A | XP_024303484.1:p.Trp125Ter | |
| XM_024447717.1:c.375G>A | XP_024303485.1:p.Trp125Ter | |
| XR_002956828.1:n.390G>A | ||
| XR_002956829.1:n.390G>A | ||
| XR_002956830.1:n.161G>A | ||
| XR_002956831.1:n.138+2030G>A | ||
| XR_002956832.1:n.161G>A | ||
| NM_012203.2:c.102G>A MANE Select | NP_036335.1:p.Trp34Ter |