Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154576163G= , CM000663.2:g.154576163G= | GRCh38 |
| NC_000001.10:g.154548639G= , CM000663.1:g.154548639G= | GRCh37 |
| NC_000001.9:g.152815263G= | NCBI36 |
| NG_008027.1:g.13383G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368476.4:c.*231G= MANE Select | ENSP00000357461.3:n.*231G= | |
| ENST00000636034.1:c.1505+235G= | ENSP00000489703.1:n.1505+235G= | |
| ENST00000637900.1:c.*231G= | ENSP00000490474.1:n.*231G= | |
| ENST00000368476.3:c.*231G= | ENSP00000357461.3:n.*231G= | |
| NM_000748.2:c.*231G= | NP_000739.1:n.*231G= | |
| XM_017000180.2:c.*231G= | XP_016855669.1:n.*231G= | |
| XR_001736952.2:n.1992G= | ||
| NM_000748.3:c.*231G= MANE Select | NP_000739.1:n.*231G= |