Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854628C>T , CM000671.2:g.97854628C>T | GRCh38 |
| NC_000009.11:g.100616910C>T , CM000671.1:g.100616910C>T | GRCh37 |
| NC_000009.10:g.99656731C>T | NCBI36 |
| NG_011979.1:g.6374C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375123.5:c.714C>T MANE Select | ENSP00000364265.3:p.Pro238= | |
| ENST00000375123.4:c.714C>T | ENSP00000364265.3:p.Pro238= | |
| NM_004473.3:c.714C>T | NP_004464.2:p.Pro238= | |
| NM_004473.4:c.714C>T MANE Select | NP_004464.2:p.Pro238= |