HGVS | Genome Assembly |
---|---|
NC_000019.10:g.2251836C>G , CM000681.2:g.2251836C>G | GRCh38 |
NC_000019.9:g.2251835C>G , CM000681.1:g.2251835C>G | GRCh37 |
NC_000019.8:g.2202835C>G | NCBI36 |
NG_012190.1:g.7723C>G | |
NG_032853.1:g.9588G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221496.5:c.1562C>G MANE Select | ENSP00000221496.2:p.Ala521Gly | |
ENST00000221496.4:c.1562C>G | ENSP00000221496.2:p.Ala521Gly | |
NM_000479.3:c.1562C>G | NP_000470.2:p.Ala521Gly | |
NM_000479.4:c.1562C>G | NP_000470.2:p.Ala521Gly | |
NM_000479.5:c.1562C>G MANE Select | NP_000470.3:p.Ala521Gly |