Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293215G>A , CM000663.2:g.168293215G>A | GRCh38 |
| NC_000001.10:g.168262453G>A , CM000663.1:g.168262453G>A | GRCh37 |
| NC_000001.9:g.166529077G>A | NCBI36 |
| NG_008244.1:g.17176G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367821.8:c.540G>A MANE Select | ENSP00000356795.3:p.Met180Ile | |
| ENST00000367821.7:c.540G>A | ENSP00000356795.3:p.Met180Ile | |
| ENST00000431969.5:c.337G>A | ||
| NM_005149.2:c.540G>A | NP_005140.1:p.Met180Ile | |
| NM_005149.3:c.540G>A MANE Select | NP_005140.1:p.Met180Ile |