Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293218A>G , CM000663.2:g.168293218A>G | GRCh38 |
| NC_000001.10:g.168262456A>G , CM000663.1:g.168262456A>G | GRCh37 |
| NC_000001.9:g.166529080A>G | NCBI36 |
| NG_008244.1:g.17179A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367821.8:c.543A>G MANE Select | ENSP00000356795.3:p.Val181= | |
| ENST00000367821.7:c.543A>G | ENSP00000356795.3:p.Val181= | |
| ENST00000431969.5:c.340A>G | ||
| NM_005149.2:c.543A>G | NP_005140.1:p.Val181= | |
| NM_005149.3:c.543A>G MANE Select | NP_005140.1:p.Val181= |