Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.36310848T>C , CM000685.2:g.36310848T>C | GRCh38 |
| NC_000023.10:g.36328963T>C , CM000685.1:g.36328963T>C | GRCh37 |
| NC_000023.9:g.36238884T>C | NCBI36 |
| NG_016381.2:g.396115T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001304548.2:c.8203T>C MANE Select | NP_001291477.1:p.Phe2735Leu |
| ENST00000378653.8:c.8203T>C MANE Select | ENSP00000367922.5:p.Phe2735Leu |
| NM_001304548.1:c.8203T>C | NP_001291477.1:p.Phe2735Leu |
| ENST00000378653.7:c.8203T>C | ENSP00000367922.5:p.Phe2735Leu |
| ENST00000378657.7:c.541T>C | ENSP00000367926.4:p.Phe181Leu |