Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86647872T>C , CM000670.2:g.86647872T>C | GRCh38 |
| NC_000008.10:g.87660100T>C , CM000670.1:g.87660100T>C | GRCh37 |
| NC_000008.9:g.87729216T>C | NCBI36 |
| NG_016980.1:g.100804A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.919A>G MANE Select | NP_061971.3:p.Ile307Val |
| ENST00000320005.6:c.919A>G MANE Select | ENSP00000316605.5:p.Ile307Val |
| NM_019098.4:c.919A>G | NP_061971.3:p.Ile307Val |
| ENST00000320005.5:c.919A>G | ENSP00000316605.5:p.Ile307Val |
| ENST00000681546.1:n.739A>G | |
| ENST00000681746.1:c.919A>G | ENSP00000505959.1:p.Ile307Val |
| XM_011517138.1:c.505A>G | XP_011515440.1:p.Ile169Val |
| XM_011517138.2:c.505A>G | XP_011515440.1:p.Ile169Val |