Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40593174C>T , CM000681.2:g.40593174C>T | GRCh38 |
| NC_000019.9:g.41099080C>T , CM000681.1:g.41099080C>T | GRCh37 |
| NC_000019.8:g.45790920C>T | NCBI36 |
| NG_021201.1:g.5009C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204005.13:c.9C>T | ENSP00000204005.10:p.Asp3= | |
| ENST00000600026.5:c.9C>T | ENSP00000483230.1:p.Asp3= | |
| NM_003573.2:c.9C>T | NP_003564.2:p.Asp3= | |
| XM_011527387.1:c.-471C>T | XP_011525689.1:n.-471C>T |