Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324451G>A , CM000669.2:g.95324451G>A | GRCh38 |
| NC_000007.13:g.94953763G>A , CM000669.1:g.94953763G>A | GRCh37 |
| NC_000007.12:g.94791699G>A | NCBI36 |
| NG_008779.1:g.5122C>T | |
| NG_008779.2:g.5256C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.25C>T MANE Select | ENSP00000222381.3:p.Leu9Phe | |
| ENST00000222381.7:c.25C>T | ENSP00000222381.3:p.Leu9Phe | |
| ENST00000433729.1:c.25C>T | ENSP00000407359.1:p.Leu9Phe | |
| NM_000446.5:c.25C>T | NP_000437.3:p.Leu9Phe | |
| NM_000446.6:c.25C>T | NP_000437.3:p.Leu9Phe | |
| NM_000446.7:c.25C>T MANE Select | NP_000437.3:p.Leu9Phe |