Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95316772A>G , CM000669.2:g.95316772A>G | GRCh38 |
| NC_000007.13:g.94946084A>G , CM000669.1:g.94946084A>G | GRCh37 |
| NC_000007.12:g.94784020A>G | NCBI36 |
| NG_008779.1:g.12801T>C | |
| NG_008779.2:g.12935T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222381.8:c.163T>C MANE Select | ENSP00000222381.3:p.Leu55= | |
| ENST00000222381.7:c.163T>C | ENSP00000222381.3:p.Leu55= | |
| ENST00000433729.1:c.163T>C | ENSP00000407359.1:p.Leu55= | |
| ENST00000470502.1:n.283T>C | ||
| NM_000446.5:c.163T>C | NP_000437.3:p.Leu55= | |
| NM_000446.6:c.163T>C | NP_000437.3:p.Leu55= | |
| NM_000446.7:c.163T>C MANE Select | NP_000437.3:p.Leu55= |