Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945775C>A , CM000665.2:g.138945775C>A | GRCh38 |
| NC_000003.11:g.138664617C>A , CM000665.1:g.138664617C>A | GRCh37 |
| NC_000003.10:g.140147307C>A | NCBI36 |
| NG_012454.1:g.6366G>T | |
| NG_029796.1:g.3542C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.948G>T MANE Select | ENSP00000497217.1:p.Ala316= | |
| ENST00000330315.3:c.948G>T | ENSP00000333188.3:p.Ala316= | |
| NM_023067.3:c.948G>T | NP_075555.1:p.Ala316= | |
| NM_023067.4:c.948G>T MANE Select | NP_075555.1:p.Ala316= |