Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24953786C>G , CM000670.2:g.24953786C>G | GRCh38 |
| NC_000008.10:g.24811300C>G , CM000670.1:g.24811300C>G | GRCh37 |
| NC_000008.9:g.24867217C>G | NCBI36 |
| NG_008492.1:g.7832G>C , LRG_259:g.7832G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.1179G>C MANE Select | ENSP00000482169.2:p.Leu393Phe | |
| ENST00000610854.1:c.1179G>C | ENSP00000482169.1:p.Leu393Phe | |
| ENST00000619417.1:c.*44G>C | ENSP00000483690.1:n.*44G>C | |
| NM_006158.4:c.1179G>C , LRG_259t1:c.1179G>C | NP_006149.2:p.Leu393Phe | |
| NM_006158.5:c.1179G>C MANE Select | NP_006149.2:p.Leu393Phe |