HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945982C>G , CM000665.2:g.138945982C>G | GRCh38 |
NC_000003.11:g.138664824C>G , CM000665.1:g.138664824C>G | GRCh37 |
NC_000003.10:g.140147514C>G | NCBI36 |
NG_012454.1:g.6159G>C | |
NG_029796.1:g.3749C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.741G>C MANE Select | ENSP00000497217.1:p.Gly247= | |
ENST00000330315.3:c.741G>C | ENSP00000333188.3:p.Gly247= | |
NM_023067.3:c.741G>C | NP_075555.1:p.Gly247= | |
NM_023067.4:c.741G>C MANE Select | NP_075555.1:p.Gly247= |