HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945674T>C , CM000665.2:g.138945674T>C | GRCh38 |
NC_000003.11:g.138664516T>C , CM000665.1:g.138664516T>C | GRCh37 |
NC_000003.10:g.140147206T>C | NCBI36 |
NG_012454.1:g.6467A>G | |
NG_029796.1:g.3441T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.1049A>G MANE Select | ENSP00000497217.1:p.Gln350Arg | |
ENST00000330315.3:c.1049A>G | ENSP00000333188.3:p.Gln350Arg | |
NM_023067.3:c.1049A>G | NP_075555.1:p.Gln350Arg | |
NM_023067.4:c.1049A>G MANE Select | NP_075555.1:p.Gln350Arg |