Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134475268C>A , CM000685.2:g.134475268C>A | GRCh38 |
| NC_000023.10:g.133609298C>A , CM000685.1:g.133609298C>A | GRCh37 |
| NC_000023.9:g.133436964C>A | NCBI36 |
| NG_012329.1:g.20124C>A | |
| NG_012329.2:g.20124C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000194.3:c.222C>A MANE Select | NP_000185.1:p.Phe74Leu |
| ENST00000298556.8:c.222C>A MANE Select | ENSP00000298556.7:p.Phe74Leu |
| NM_000194.2:c.222C>A | NP_000185.1:p.Phe74Leu |
| ENST00000298556.7:c.222C>A | ENSP00000298556.7:p.Phe74Leu |
| ENST00000462974.5:n.380C>A | |
| ENST00000475720.1:n.180C>A | |
| XM_011531328.1:c.240C>A | XP_011529630.1:p.Phe80Leu |