HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20759999A>G , CM000686.2:g.20759999A>G | GRCh38 |
NC_000024.9:g.22921885A>G , CM000686.1:g.22921885A>G | GRCh37 |
NC_000024.8:g.21331273A>G | NCBI36 |
NG_032924.1:g.8932A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000629237.2:c.213A>G MANE Select | ENSP00000486252.1:p.Lys71= | |
ENST00000629237.1:c.213A>G | ENSP00000486252.1:p.Lys71= | |
NM_001039567.2:c.213A>G | NP_001034656.1:p.Lys71= | |
XM_011531423.1:c.162A>G | XP_011529725.1:p.Lys54= | |
NM_001039567.3:c.213A>G MANE Select | NP_001034656.1:p.Lys71= |