dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39928097T>A , CM000679.2:g.39928097T>A | GRCh38 |
| NC_000017.10:g.38084350T>A , CM000679.1:g.38084350T>A | GRCh37 |
| NC_000017.9:g.35337876T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377924.6:c.-175+283T>A MANE Select | ENSP00000367157.4:n.-175+283T>A | |
| XM_011524157.1:c.-342+283T>A | XP_011522459.1:n.-342+283T>A | |
| XM_011524158.1:c.-175+283T>A | XP_011522460.1:n.-175+283T>A | |
| XR_934341.1:n.215T>A | ||
| XR_934342.1:n.78+283T>A | ||
| XR_934343.1:n.78+283T>A | ||
| XR_934344.1:n.79+283T>A | ||
| XM_011524158.2:c.-175+283T>A | XP_011522460.1:n.-175+283T>A | |
| XR_002957937.1:n.78+283T>A | ||
| XR_002958099.1:n.79+196T>A | ||
| XR_934344.2:n.79+283T>A | ||
| NM_001195545.2:c.-175+283T>A MANE Select | NP_001182474.1:n.-175+283T>A |