Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31531468G= , CM000664.2:g.31531468G= | GRCh38 |
| NC_000002.11:g.31756538G= , CM000664.1:g.31756538G= | GRCh37 |
| NC_000002.10:g.31610042G= | NCBI36 |
| NG_008365.1:g.54504C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.450C= MANE Select | ENSP00000477587.1:p.Val150= | |
| ENST00000622030.1:c.450C= | ENSP00000477587.1:p.Val150= | |
| NM_000348.3:c.450C= | NP_000339.2:p.Val150= | |
| XM_011533069.1:c.228C= | XP_011531371.1:p.Val76= | |
| XM_011533070.1:c.195C= | XP_011531372.1:p.Val65= | |
| XM_011533071.1:c.195C= | XP_011531373.1:p.Val65= | |
| XM_011533072.1:c.195C= | XP_011531374.1:p.Val65= | |
| XM_011533069.2:c.228C= | XP_011531371.1:p.Val76= | |
| XM_011533072.2:c.195C= | XP_011531374.1:p.Val65= | |
| NM_000348.4:c.450C= MANE Select | NP_000339.2:p.Val150= |