Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716764A>C , CM000667.2:g.14716764A>C | GRCh38 |
| NC_000005.9:g.14716873A>C , CM000667.1:g.14716873A>C | GRCh37 |
| NC_000005.8:g.14769873A>C | NCBI36 |
| NG_008273.1:g.160015T>G | |
| NG_008273.2:g.160022T>G | |
| NG_051625.1:g.60971A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1083T>G MANE Select | ENSP00000284268.6:p.Phe361Leu | |
| ENST00000284268.6:c.1083T>G | ENSP00000284268.6:p.Phe361Leu | |
| ENST00000502585.1:n.325T>G | ||
| NM_054027.4:c.1083T>G | NP_473368.1:p.Phe361Leu | |
| NM_054027.5:c.1083T>G | NP_473368.1:p.Phe361Leu | |
| XM_017009644.2:c.999T>G | XP_016865133.1:p.Phe333Leu | |
| NM_054027.6:c.1083T>G MANE Select | NP_473368.1:p.Phe361Leu |