Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142848466C>T , CM000665.2:g.142848466C>T | GRCh38 |
| NC_000003.11:g.142567308C>T , CM000665.1:g.142567308C>T | GRCh37 |
| NC_000003.10:g.144049998C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295992.8:c.199G>A MANE Select | ENSP00000295992.3:p.Glu67Lys | |
| ENST00000648195.1:c.199G>A | ENSP00000497763.1:p.Glu67Lys | |
| ENST00000295992.7:c.199G>A | ENSP00000295992.3:p.Glu67Lys | |
| ENST00000485766.1:c.199G>A | ENSP00000419842.1:p.Glu67Lys | |
| ENST00000495732.5:n.364G>A | ||
| NM_013363.3:c.199G>A | NP_037495.1:p.Glu67Lys | |
| NM_013363.4:c.199G>A MANE Select | NP_037495.1:p.Glu67Lys |