HGVS | Genome Assembly |
---|---|
NC_000021.9:g.41756608A>C , CM000683.2:g.41756608A>C | GRCh38 |
NC_000021.8:g.43176768A>C , CM000683.1:g.43176768A>C | GRCh37 |
NC_000021.7:g.42049837A>C | NCBI36 |
NG_032113.1:g.15482T>G | |
NG_032113.2:g.15482T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332512.8:c.391T>G MANE Select | ENSP00000332454.3:p.Phe131Val | |
ENST00000332512.7:c.391T>G | ENSP00000332454.3:p.Phe131Val | |
ENST00000352483.3:c.391T>G | ENSP00000330161.2:p.Phe131Val | |
NM_020639.2:c.391T>G | NP_065690.2:p.Phe131Val | |
NM_020639.3:c.391T>G MANE Select | NP_065690.2:p.Phe131Val |