HGVS | Genome Assembly |
---|---|
NC_000009.12:g.120927873C>G , CM000671.2:g.120927873C>G | GRCh38 |
NC_000009.11:g.123690151C>G , CM000671.1:g.123690151C>G | GRCh37 |
NC_000009.10:g.122729972C>G | NCBI36 |
NG_023346.1:g.6301G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373887.7:c.-1550G>C | ENSP00000362994.3:n.-1550G>C | |
ENST00000540010.1:c.-365-1185G>C | ENSP00000443183.1:n.-365-1185G>C | |
NM_001190945.1:c.-365-1185G>C | NP_001177874.1:n.-365-1185G>C | |
NM_001190945.2:c.-365-1185G>C | NP_001177874.1:n.-365-1185G>C |