HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40931704T>C , CM000677.2:g.40931704T>C | GRCh38 |
NC_000015.9:g.41223902T>C , CM000677.1:g.41223902T>C | GRCh37 |
NC_000015.8:g.39011194T>C | NCBI36 |
NG_046974.1:g.7372T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249749.7:c.596T>C MANE Select | ENSP00000249749.5:p.Val199Ala | |
ENST00000249749.6:c.596T>C | ENSP00000249749.5:p.Val199Ala | |
ENST00000559440.1:n.825T>C | ||
NM_019074.3:c.596T>C | NP_061947.1:p.Val199Ala | |
NM_019074.4:c.596T>C MANE Select | NP_061947.1:p.Val199Ala |