HGVS | Genome Assembly |
---|---|
NC_000002.12:g.47403093C>G , CM000664.2:g.47403093C>G | GRCh38 |
NC_000002.11:g.47630232C>G , CM000664.1:g.47630232C>G | GRCh37 |
NC_000002.10:g.47483736C>G | NCBI36 |
NG_007110.2:g.4970C>G , LRG_218:g.4970C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000543555.6:c.-113C>G | ENSP00000442697.1:n.-113C>G | |
ENST00000233146.6:c.-99C>G | ENSP00000233146.2:n.-99C>G | |
ENST00000454849.5:c.-113C>G | ENSP00000411482.1:n.-113C>G | |
ENST00000543555.5:c.-113C>G | ENSP00000442697.1:n.-113C>G | |
NM_000251.2:c.-99C>G , LRG_218t1:c.-99C>G | NP_000242.1:n.-99C>G | |
NM_001258281.1:c.-113C>G | NP_001245210.1:n.-113C>G |