Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946030A>G , CM000665.2:g.138946030A>G | GRCh38 |
| NC_000003.11:g.138664872A>G , CM000665.1:g.138664872A>G | GRCh37 |
| NC_000003.10:g.140147562A>G | NCBI36 |
| NG_012454.1:g.6111T>C | |
| NG_029796.1:g.3797A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.693T>C MANE Select | ENSP00000497217.1:p.Ala231= | |
| ENST00000330315.3:c.693T>C | ENSP00000333188.3:p.Ala231= | |
| NM_023067.3:c.693T>C | NP_075555.1:p.Ala231= | |
| NM_023067.4:c.693T>C MANE Select | NP_075555.1:p.Ala231= |