Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093543C>T , CM000664.2:g.176093543C>T | GRCh38 |
| NC_000002.11:g.176958271C>T , CM000664.1:g.176958271C>T | GRCh37 |
| NC_000002.10:g.176666517C>T | NCBI36 |
| NG_008137.1:g.5740C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.653C>T MANE Select | ENSP00000376322.3:p.Pro218Leu | |
| ENST00000392539.3:c.653C>T | ENSP00000376322.3:p.Pro218Leu | |
| NM_000523.3:c.653C>T | NP_000514.2:p.Pro218Leu | |
| XM_011511068.1:c.725-937C>T | XP_011509370.1:n.725-937C>T | |
| XM_011511068.2:c.725-937C>T | XP_011509370.1:n.725-937C>T | |
| NM_000523.4:c.653C>T MANE Select | NP_000514.2:p.Pro218Leu |