Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942780C>G , CM000664.2:g.44942780C>G | GRCh38 |
| NC_000002.11:g.45169919C>G , CM000664.1:g.45169919C>G | GRCh37 |
| NC_000002.10:g.45023423C>G | NCBI36 |
| NG_016222.1:g.5883C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260653.5:c.676C>G MANE Select | ENSP00000260653.3:p.Leu226Val | |
| ENST00000260653.4:c.676C>G | ENSP00000260653.3:p.Leu226Val | |
| NM_005413.3:c.676C>G | NP_005404.1:p.Leu226Val | |
| XM_011533042.1:c.676C>G | XP_011531344.1:p.Leu226Val | |
| NM_005413.4:c.676C>G MANE Select | NP_005404.1:p.Leu226Val |