HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945570T>C , CM000665.2:g.138945570T>C | GRCh38 |
NC_000003.11:g.138664412T>C , CM000665.1:g.138664412T>C | GRCh37 |
NC_000003.10:g.140147102T>C | NCBI36 |
NG_012454.1:g.6571A>G | |
NG_029796.1:g.3337T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.*22A>G MANE Select | ENSP00000497217.1:n.*22A>G | |
ENST00000330315.3:c.*22A>G | ENSP00000333188.3:n.*22A>G | |
NM_023067.3:c.*22A>G | NP_075555.1:n.*22A>G | |
NM_023067.4:c.*22A>G MANE Select | NP_075555.1:n.*22A>G |