HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186191704G>C , CM000666.2:g.186191704G>C | GRCh38 |
NC_000004.11:g.187112858G>C , CM000666.1:g.187112858G>C | GRCh37 |
NC_000004.10:g.187349852G>C | NCBI36 |
NG_007965.1:g.5185G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378802.5:c.-120G>C MANE Select | ENSP00000368079.4:n.-120G>C | |
ENST00000378802.4:c.-120G>C | ENSP00000368079.4:n.-120G>C | |
NM_207352.3:c.-120G>C | NP_997235.3:n.-120G>C | |
XM_005262935.2:c.-120G>C | XP_005262992.1:n.-120G>C | |
XM_017008037.1:c.-430G>C | XP_016863526.1:n.-430G>C | |
NM_207352.4:c.-120G>C MANE Select | NP_997235.3:n.-120G>C |