HGVS | Genome Assembly |
---|---|
NC_000009.12:g.120928014G>C , CM000671.2:g.120928014G>C | GRCh38 |
NC_000009.11:g.123690292G>C , CM000671.1:g.123690292G>C | GRCh37 |
NC_000009.10:g.122730113G>C | NCBI36 |
NG_023346.1:g.6160C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373887.7:c.-1691C>G | ENSP00000362994.3:n.-1691C>G | |
ENST00000540010.1:c.-366+1100C>G | ENSP00000443183.1:n.-366+1100C>G | |
NM_001190945.1:c.-366+1100C>G | NP_001177874.1:n.-366+1100C>G | |
NM_001190945.2:c.-366+1100C>G | NP_001177874.1:n.-366+1100C>G |