Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85053393C>T , CM000664.2:g.85053393C>T | GRCh38 |
| NC_000002.11:g.85280516C>T , CM000664.1:g.85280516C>T | GRCh37 |
| NC_000002.10:g.85134027C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020122.5:c.1130C>T MANE Select | NP_064507.3:p.Pro377Leu |
| ENST00000409785.9:c.1130C>T MANE Select | ENSP00000386738.3:p.Pro377Leu |
| NM_020122.4:c.1130C>T | NP_064507.3:p.Pro377Leu |
| ENST00000409785.8:c.1130C>T | ENSP00000386738.3:p.Pro377Leu |
| XM_006712052.2:c.1154C>T | XP_006712115.1:p.Pro385Leu |
| XM_006712052.3:c.1154C>T | XP_006712115.1:p.Pro385Leu |
| XM_011532990.1:c.977C>T | XP_011531292.1:p.Pro326Leu |
| XM_017004511.1:c.671C>T | XP_016860000.1:p.Pro224Leu |