HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130452225C>T , CM000671.2:g.130452225C>T | GRCh38 |
NC_000009.11:g.133327612C>T , CM000671.1:g.133327612C>T | GRCh37 |
NC_000009.10:g.132317433C>T | NCBI36 |
NG_011542.1:g.12519C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000352480.10:c.-4C>T MANE Select | ENSP00000253004.6:n.-4C>T | |
ENST00000352480.9:c.-4C>T | ENSP00000253004.6:n.-4C>T | |
ENST00000372393.7:c.-4C>T | ENSP00000361469.2:n.-4C>T | |
ENST00000372394.5:c.-4C>T | ENSP00000361471.1:n.-4C>T | |
ENST00000422569.5:c.-4C>T | ENSP00000394212.1:n.-4C>T | |
ENST00000443588.1:c.-4C>T | ENSP00000397785.1:n.-4C>T | |
NM_000050.4:c.-4C>T | NP_000041.2:n.-4C>T | |
NM_054012.3:c.-4C>T | NP_446464.1:n.-4C>T | |
XM_005272200.2:c.-4C>T | XP_005272257.1:n.-4C>T | |
XM_011518705.1:c.111C>T | XP_011517007.1:p.Asp37= | |
XM_005272200.3:c.-4C>T | XP_005272257.1:n.-4C>T | |
XM_011518705.2:c.111C>T | XP_011517007.1:p.Asp37= | |
XM_017014729.1:c.93C>T | XP_016870218.1:p.Asp31= | |
NM_054012.4:c.-4C>T MANE Select | NP_446464.1:n.-4C>T |