dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.3875932T>A , CM000669.2:g.3875932T>A | GRCh38 |
| NC_000007.13:g.3915564T>A , CM000669.1:g.3915564T>A | GRCh37 |
| NC_000007.12:g.3882090T>A | NCBI36 |
| NG_051298.1:g.579485T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404826.7:c.847+54349T>A MANE Select | ENSP00000385899.2:n.847+54349T>A | |
| ENST00000389531.7:c.847+54349T>A | ENSP00000374182.3:n.847+54349T>A | |
| ENST00000404826.6:c.847+54349T>A | ENSP00000385899.2:n.847+54349T>A | |
| ENST00000615806.4:c.847+54349T>A | ENSP00000478062.1:n.847+54349T>A | |
| NM_152744.3:c.847+54349T>A | NP_689957.3:n.847+54349T>A | |
| NM_152744.4:c.847+54349T>A MANE Select | NP_689957.3:n.847+54349T>A |