Linked Data
dbSNP Id:
rs751042584
ExAC:
1:949374 T / A
gnomAD v2:
1-949374-T-A
gnomAD v4:
1-1013994-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1013994T>A , CM000663.2:g.1013994T>A | GRCh38 |
| NC_000001.10:g.949374T>A , CM000663.1:g.949374T>A | GRCh37 |
| NC_000001.9:g.939237T>A | NCBI36 |
| NG_033033.1:g.5528T>A | |
| NG_033033.2:g.17857T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.-11T>A | ENSP00000485643.1:n.-11T>A | |
| ENST00000649529.1:c.14T>A MANE Select | ENSP00000496832.1:p.Leu5Gln | |
| ENST00000379389.4:c.14T>A | ENSP00000368699.4:p.Leu5Gln | |
| ENST00000624652.1:c.-11T>A | ENSP00000485313.1:n.-11T>A | |
| ENST00000624697.3:c.-11T>A | ENSP00000485643.1:n.-11T>A | |
| NM_005101.3:c.14T>A | NP_005092.1:p.Leu5Gln | |
| NM_005101.4:c.14T>A MANE Select | NP_005092.1:p.Leu5Gln |