Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.176727966T>C , CM000666.2:g.176727966T>C | GRCh38 |
| NC_000004.11:g.177649120T>C , CM000666.1:g.177649120T>C | GRCh37 |
| NC_000004.10:g.177886114T>C | NCBI36 |
| NG_034216.1:g.69780A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618562.2:c.364A>G MANE Select | ENSP00000480043.1:p.Ile122Val | |
| ENST00000507638.1:n.63A>G | ||
| ENST00000618562.1:c.364A>G | ENSP00000480043.1:p.Ile122Val | |
| NM_005429.4:c.364A>G | NP_005420.1:p.Ile122Val | |
| NM_005429.5:c.364A>G MANE Select | NP_005420.1:p.Ile122Val |