Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64616174A>G , CM000670.2:g.64616174A>G | GRCh38 |
| NC_000008.10:g.65528731A>G , CM000670.1:g.65528731A>G | GRCh37 |
| NC_000008.9:g.65691285A>G | NCBI36 |
| NG_008338.1:g.187618T>C | |
| NG_008338.2:g.187618T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.367T>C MANE Select | ENSP00000310721.3:p.Phe123Leu | |
| ENST00000310193.3:c.367T>C | ENSP00000310721.3:p.Phe123Leu | |
| NM_004820.3:c.367T>C | NP_004811.1:p.Phe123Leu | |
| NM_001324112.1:c.367T>C | NP_001311041.1:p.Phe123Leu | |
| NM_004820.4:c.367T>C | NP_004811.1:p.Phe123Leu | |
| XM_017014002.1:c.433T>C | XP_016869491.1:p.Phe145Leu | |
| NM_004820.5:c.367T>C MANE Select | NP_004811.1:p.Phe123Leu | |
| NM_001324112.2:c.367T>C | NP_001311041.1:p.Phe123Leu |