Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31531436A= , CM000664.2:g.31531436A= | GRCh38 |
| NC_000002.11:g.31756506A= , CM000664.1:g.31756506A= | GRCh37 |
| NC_000002.10:g.31610010A= | NCBI36 |
| NG_008365.1:g.54536T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.482T= MANE Select | ENSP00000477587.1:p.Ile161= | |
| ENST00000622030.1:c.482T= | ENSP00000477587.1:p.Ile161= | |
| NM_000348.3:c.482T= | NP_000339.2:p.Ile161= | |
| XM_011533069.1:c.260T= | XP_011531371.1:p.Ile87= | |
| XM_011533070.1:c.227T= | XP_011531372.1:p.Ile76= | |
| XM_011533071.1:c.227T= | XP_011531373.1:p.Ile76= | |
| XM_011533072.1:c.227T= | XP_011531374.1:p.Ile76= | |
| XM_011533069.2:c.260T= | XP_011531371.1:p.Ile87= | |
| XM_011533072.2:c.227T= | XP_011531374.1:p.Ile76= | |
| NM_000348.4:c.482T= MANE Select | NP_000339.2:p.Ile161= |