Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945695A>G , CM000665.2:g.138945695A>G | GRCh38 |
| NC_000003.11:g.138664537A>G , CM000665.1:g.138664537A>G | GRCh37 |
| NC_000003.10:g.140147227A>G | NCBI36 |
| NG_012454.1:g.6446T>C | |
| NG_029796.1:g.3462A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.1028T>C MANE Select | ENSP00000497217.1:p.Leu343Pro | |
| ENST00000330315.3:c.1028T>C | ENSP00000333188.3:p.Leu343Pro | |
| NM_023067.3:c.1028T>C | NP_075555.1:p.Leu343Pro | |
| NM_023067.4:c.1028T>C MANE Select | NP_075555.1:p.Leu343Pro |