Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165046845G>A , CM000665.2:g.165046845G>A | GRCh38 |
| NC_000003.11:g.164764633G>A , CM000665.1:g.164764633G>A | GRCh37 |
| NC_000003.10:g.166247327G>A | NCBI36 |
| NG_017043.1:g.36651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.1883C>T MANE Select | ENSP00000264382.3:p.Pro628Leu | |
| ENST00000264382.7:c.1883C>T | ENSP00000264382.3:p.Pro628Leu | |
| NM_001041.3:c.1883C>T | NP_001032.2:p.Pro628Leu | |
| XM_011513078.1:c.1784C>T | XP_011511380.1:p.Pro595Leu | |
| XM_011513078.2:c.1784C>T | XP_011511380.1:p.Pro595Leu | |
| NM_001041.4:c.1883C>T MANE Select | NP_001032.2:p.Pro628Leu |