Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454503C>T , CM000679.2:g.7454503C>T | GRCh38 |
| NC_000017.10:g.7357822C>T , CM000679.1:g.7357822C>T | GRCh37 |
| NC_000017.9:g.7298546C>T | NCBI36 |
| NG_008026.1:g.14417C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1027C>T MANE Select | ENSP00000304290.2:p.Pro343Ser | |
| ENST00000306071.6:c.1027C>T | ENSP00000304290.2:p.Pro343Ser | |
| ENST00000536404.6:c.811C>T | ENSP00000439209.2:p.Pro271Ser | |
| ENST00000570557.5:c.690C>T | ||
| ENST00000573209.1:n.1971C>T | ||
| ENST00000576360.1:c.664C>T | ENSP00000459092.1:p.Pro222Ser | |
| NM_000747.2:c.1027C>T | NP_000738.2:p.Pro343Ser | |
| NM_000747.3:c.1027C>T MANE Select | NP_000738.2:p.Pro343Ser |