Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8009554A>G , CM000679.2:g.8009554A>G | GRCh38 |
| NC_000017.10:g.7912872A>G , CM000679.1:g.7912872A>G | GRCh37 |
| NC_000017.9:g.7853597A>G | NCBI36 |
| NG_009092.1:g.11885A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000180.4:c.1717A>G MANE Select | NP_000171.1:p.Ile573Val |
| ENST00000254854.5:c.1717A>G MANE Select | ENSP00000254854.4:p.Ile573Val |
| NM_000180.3:c.1717A>G | NP_000171.1:p.Ile573Val |
| ENST00000254854.4:c.1717A>G | ENSP00000254854.4:p.Ile573Val |
| XM_011523816.1:c.1717A>G | XP_011522118.1:p.Ile573Val |