Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95316772A>C , CM000669.2:g.95316772A>C | GRCh38 |
| NC_000007.13:g.94946084A>C , CM000669.1:g.94946084A>C | GRCh37 |
| NC_000007.12:g.94784020A>C | NCBI36 |
| NG_008779.1:g.12801T>G | |
| NG_008779.2:g.12935T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222381.8:c.163T>G MANE Select | ENSP00000222381.3:p.Leu55Val | |
| ENST00000222381.7:c.163T>G | ENSP00000222381.3:p.Leu55Val | |
| ENST00000433729.1:c.163T>G | ENSP00000407359.1:p.Leu55Val | |
| ENST00000470502.1:n.283T>G | ||
| NM_000446.5:c.163T>G | NP_000437.3:p.Leu55Val | |
| NM_000446.6:c.163T>G | NP_000437.3:p.Leu55Val | |
| NM_000446.7:c.163T>G MANE Select | NP_000437.3:p.Leu55Val |