HGVS | Genome Assembly |
---|---|
NC_000009.12:g.99221601C>G , CM000671.2:g.99221601C>G | GRCh38 |
NC_000009.11:g.101983883C>G , CM000671.1:g.101983883C>G | GRCh37 |
NC_000009.10:g.101023704C>G | NCBI36 |
NG_008928.1:g.5364G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476832.2:c.294G>C MANE Select | ENSP00000417764.1:p.Ala98= | |
ENST00000238477.5:c.294G>C | ENSP00000432675.2:p.Ala98= | |
ENST00000476832.1:c.294G>C | ENSP00000417764.1:p.Ala98= | |
NM_033087.3:c.294G>C | NP_149078.1:p.Ala98= | |
NR_024532.1:n.364G>C | ||
NM_033087.4:c.294G>C MANE Select | NP_149078.1:p.Ala98= | |
NR_024532.2:n.342G>C |