Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454504C>T , CM000679.2:g.7454504C>T | GRCh38 |
| NC_000017.10:g.7357823C>T , CM000679.1:g.7357823C>T | GRCh37 |
| NC_000017.9:g.7298547C>T | NCBI36 |
| NG_008026.1:g.14418C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1028C>T MANE Select | ENSP00000304290.2:p.Pro343Leu | |
| ENST00000306071.6:c.1028C>T | ENSP00000304290.2:p.Pro343Leu | |
| ENST00000536404.6:c.812C>T | ENSP00000439209.2:p.Pro271Leu | |
| ENST00000570557.5:c.691C>T | ||
| ENST00000573209.1:n.1972C>T | ||
| ENST00000576360.1:c.665C>T | ENSP00000459092.1:p.Pro222Leu | |
| NM_000747.2:c.1028C>T | NP_000738.2:p.Pro343Leu | |
| NM_000747.3:c.1028C>T MANE Select | NP_000738.2:p.Pro343Leu |