Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26630360C>T , CM000684.2:g.26630360C>T | GRCh38 |
| NC_000022.10:g.27026324C>T , CM000684.1:g.27026324C>T | GRCh37 |
| NC_000022.9:g.25356324C>T | NCBI36 |
| NG_009825.1:g.13397C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001886.3:c.464C>T MANE Select | NP_001877.1:p.Pro155Leu |
| ENST00000354760.4:c.464C>T MANE Select | ENSP00000346805.3:p.Pro155Leu |
| NM_001886.2:c.464C>T | NP_001877.1:p.Pro155Leu |
| ENST00000354760.3:c.464C>T | ENSP00000346805.3:p.Pro155Leu |
| ENST00000466315.1:n.361C>T | |
| XM_006724140.2:c.479C>T | XP_006724203.1:p.Pro160Leu |
| XM_006724140.3:c.479C>T | XP_006724203.1:p.Pro160Leu |
| XM_011529898.1:c.578C>T | XP_011528200.1:p.Pro193Leu |
| XM_017028598.1:c.497C>T | XP_016884087.1:p.Pro166Leu |