Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60719964G>A , CM000676.2:g.60719964G>A | GRCh38 |
| NC_000014.8:g.61186682G>A , CM000676.1:g.61186682G>A | GRCh37 |
| NC_000014.7:g.60256435G>A | NCBI36 |
| NG_021182.1:g.9171C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017420.5:c.1345C>T MANE Select | NP_059116.3:p.Pro449Ser |
| ENST00000216513.5:c.1345C>T MANE Select | ENSP00000216513.4:p.Pro449Ser |
| NM_017420.4:c.1345C>T | NP_059116.3:p.Pro449Ser |
| ENST00000216513.4:c.1345C>T | ENSP00000216513.4:p.Pro449Ser |
| ENST00000554079.1:n.762C>T | |
| ENST00000556952.3:c.1321C>T | ENSP00000450761.3:p.Pro441Ser |
| XM_005267759.1:c.1321C>T | XP_005267816.1:p.Pro441Ser |
| XM_005267759.2:c.1321C>T | XP_005267816.1:p.Pro441Ser |
| XR_001750375.2:n.1581C>T |