Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76969210C>A , CM000667.2:g.76969210C>A | GRCh38 |
| NC_000005.9:g.76265035C>A , CM000667.1:g.76265035C>A | GRCh37 |
| NC_000005.8:g.76300791C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001882.4:c.*325C>A MANE Select | NP_001873.2:n.*325C>A |
| ENST00000274368.9:c.*325C>A MANE Select | ENSP00000274368.4:n.*325C>A |
| NM_001882.3:c.*325C>A | NP_001873.2:n.*325C>A |
| ENST00000274368.8:c.*325C>A | ENSP00000274368.4:n.*325C>A |
| ENST00000514258.1:n.311+5750C>A | |
| XR_948235.1:n.1111+5750C>A | |
| XR_948235.3:n.1091+5750C>A |