Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946051T>G , CM000665.2:g.138946051T>G | GRCh38 |
| NC_000003.11:g.138664893T>G , CM000665.1:g.138664893T>G | GRCh37 |
| NC_000003.10:g.140147583T>G | NCBI36 |
| NG_012454.1:g.6090A>C | |
| NG_029796.1:g.3818T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.672A>C MANE Select | ENSP00000497217.1:p.Ala224= | |
| ENST00000330315.3:c.672A>C | ENSP00000333188.3:p.Ala224= | |
| NM_023067.3:c.672A>C | NP_075555.1:p.Ala224= | |
| NM_023067.4:c.672A>C MANE Select | NP_075555.1:p.Ala224= |