HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945703C>G , CM000665.2:g.138945703C>G | GRCh38 |
NC_000003.11:g.138664545C>G , CM000665.1:g.138664545C>G | GRCh37 |
NC_000003.10:g.140147235C>G | NCBI36 |
NG_012454.1:g.6438G>C | |
NG_029796.1:g.3470C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.1020G>C MANE Select | ENSP00000497217.1:p.Ala340= | |
ENST00000330315.3:c.1020G>C | ENSP00000333188.3:p.Ala340= | |
NM_023067.3:c.1020G>C | NP_075555.1:p.Ala340= | |
NM_023067.4:c.1020G>C MANE Select | NP_075555.1:p.Ala340= |