Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10419678C>T , CM000663.2:g.10419678C>T | GRCh38 |
| NC_000001.10:g.10479735C>T , CM000663.1:g.10479735C>T | GRCh37 |
| NC_000001.9:g.10402322C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270776.13:c.1381C>T MANE Select | ENSP00000270776.8:p.Pro461Ser | |
| ENST00000270776.12:c.1381C>T | ENSP00000270776.8:p.Pro461Ser | |
| ENST00000496718.1:n.376C>T | ||
| ENST00000498356.1:n.638C>T | ||
| NM_001304451.1:c.1315C>T | NP_001291380.1:p.Pro439Ser | |
| NM_001304452.1:c.1342C>T | NP_001291381.1:p.Pro448Ser | |
| NM_002631.3:c.1381C>T | NP_002622.2:p.Pro461Ser | |
| NM_002631.4:c.1381C>T MANE Select | NP_002622.2:p.Pro461Ser | |
| NM_001304451.2:c.1315C>T | NP_001291380.1:p.Pro439Ser | |
| NM_001304452.2:c.1342C>T | NP_001291381.1:p.Pro448Ser |