Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813980C= , CM000671.2:g.129813980C= | GRCh38 |
| NC_000009.11:g.132576259C= , CM000671.1:g.132576259C= | GRCh37 |
| NC_000009.10:g.131616080C= | NCBI36 |
| NG_008049.1:g.15183G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.991G= MANE Select | ENSP00000345719.4:p.Asp331= | |
| ENST00000651202.1:c.*259G= | ENSP00000498222.1:n.*259G= | |
| ENST00000351698.4:c.991G= | ENSP00000345719.4:p.Asp331= | |
| ENST00000474192.1:n.575G= | ||
| NM_000113.2:c.991G= | NP_000104.1:p.Asp331= | |
| XR_929731.3:n.1186G= | ||
| NM_000113.3:c.991G= MANE Select | NP_000104.1:p.Asp331= |