Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21882610G>C , CM000685.2:g.21882610G>C | GRCh38 |
| NC_000023.10:g.21900728G>C , CM000685.1:g.21900728G>C | GRCh37 |
| NC_000023.9:g.21810649G>C | NCBI36 |
| NG_012797.1:g.48073G>C | |
| NG_012797.2:g.48073G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015884.4:c.1515G>C MANE Select | NP_056968.1:p.Leu505Phe |
| ENST00000379484.10:c.1515G>C MANE Select | ENSP00000368798.5:p.Leu505Phe |
| NM_015884.3:c.1515G>C | NP_056968.1:p.Leu505Phe |
| ENST00000379484.9:c.1515G>C | ENSP00000368798.5:p.Leu505Phe |