HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74754816T>G , CM000677.2:g.74754816T>G | GRCh38 |
NC_000015.9:g.75047157T>G , CM000677.1:g.75047157T>G | GRCh37 |
NC_000015.8:g.72834210T>G | NCBI36 |
NG_008431.1:g.37275T>G | |
NG_008431.2:g.37275T>G | |
NG_061543.1:g.10972T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.1279T>G MANE Select | ENSP00000342007.4:p.Phe427Val | |
ENST00000343932.4:c.1279T>G | ENSP00000342007.4:p.Phe427Val | |
NM_000761.4:c.1279T>G | NP_000752.2:p.Phe427Val | |
NM_000761.5:c.1279T>G MANE Select | NP_000752.2:p.Phe427Val |