HGVS | Genome Assembly |
---|---|
NC_000004.12:g.177442423G>T , CM000666.2:g.177442423G>T | GRCh38 |
NC_000004.11:g.178363577G>T , CM000666.1:g.178363577G>T | GRCh37 |
NC_000004.10:g.178600571G>T | NCBI36 |
NG_011845.2:g.5081C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264595.7:c.-48C>A MANE Select | ENSP00000264595.2:n.-48C>A | |
ENST00000264595.6:c.-48C>A | ENSP00000264595.2:n.-48C>A | |
NM_000027.3:c.-48C>A | NP_000018.2:n.-48C>A | |
NM_001171988.1:c.-48C>A | NP_001165459.1:n.-48C>A | |
NR_033655.1:n.81C>A | ||
XM_006714123.2:c.-48C>A | XP_006714186.1:n.-48C>A | |
XR_001741155.2:n.47C>A | ||
NM_000027.4:c.-48C>A MANE Select | NP_000018.2:n.-48C>A | |
NM_001171988.2:c.-48C>A | NP_001165459.1:n.-48C>A | |
NR_033655.2:n.15C>A |