Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722199G>A , CM000668.2:g.42722199G>A | GRCh38 |
| NC_000006.11:g.42689937G>A , CM000668.1:g.42689937G>A | GRCh37 |
| NC_000006.10:g.42797915G>A | NCBI36 |
| NG_009176.1:g.5422C>T | |
| NG_009176.2:g.5422C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.136C>T MANE Select | NP_000313.2:p.Arg46Ter |
| ENST00000230381.7:c.136C>T MANE Select | ENSP00000230381.5:p.Arg46Ter |
| NM_000322.4:c.136C>T | NP_000313.2:p.Arg46Ter |
| ENST00000230381.6:c.136C>T | ENSP00000230381.5:p.Arg46Ter |
| XR_427834.2:n.791C>T | |
| XR_427834.4:n.841C>T | |
| XR_926295.1:n.791C>T | |
| XR_926295.3:n.841C>T |