Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690502C>A , CM000685.2:g.153690502C>A | GRCh38 |
| NC_000023.10:g.152955957C>A , CM000685.1:g.152955957C>A | GRCh37 |
| NC_000023.9:g.152609151C>A | NCBI36 |
| NG_012016.1:g.7206C>A | |
| NG_012016.2:g.7206C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.390C>A MANE Select | ENSP00000253122.5:p.Phe130Leu | |
| ENST00000675713.1:n.144C>A | ||
| ENST00000253122.9:c.390C>A | ENSP00000253122.5:p.Phe130Leu | |
| ENST00000430077.6:c.45C>A | ENSP00000403041.2:p.Phe15Leu | |
| ENST00000476466.1:n.242C>A | ||
| NM_001142805.1:c.390C>A | NP_001136277.1:p.Phe130Leu | |
| NM_001142806.1:c.45C>A | NP_001136278.1:p.Phe15Leu | |
| NM_005629.3:c.390C>A | NP_005620.1:p.Phe130Leu | |
| NM_005629.4:c.390C>A MANE Select | NP_005620.1:p.Phe130Leu | |
| NM_001142805.2:c.390C>A | NP_001136277.1:p.Phe130Leu |