HGVS | Genome Assembly |
---|---|
NC_000018.10:g.74520377C>T , CM000680.2:g.74520377C>T | GRCh38 |
NC_000018.9:g.72187612C>T , CM000680.1:g.72187612C>T | GRCh37 |
NC_000018.8:g.70338592C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000324262.9:c.*309C>T MANE Select | ENSP00000325548.4:n.*309C>T | |
ENST00000324262.8:c.*309C>T | ENSP00000325548.4:n.*309C>T | |
ENST00000324301.12:c.*309C>T | ENSP00000325756.8:n.*309C>T | |
ENST00000579624.1:c.449C>T | ENSP00000462034.1:n.449C>T | |
ENST00000579847.5:c.*309C>T | ENSP00000462311.1:n.*309C>T | |
ENST00000584581.5:n.3779C>T | ||
NM_001168499.1:c.*309C>T | NP_001161971.1:n.*309C>T | |
NM_018235.2:c.*309C>T | NP_060705.2:n.*309C>T | |
XM_005266728.1:c.*309C>T | XP_005266785.1:n.*309C>T | |
XM_006722503.1:c.*309C>T | XP_006722566.1:n.*309C>T | |
XM_011526071.1:c.*309C>T | XP_011524373.1:n.*309C>T | |
XM_011526072.1:c.*309C>T | XP_011524374.1:n.*309C>T | |
XM_011526073.1:c.*309C>T | XP_011524375.1:n.*309C>T | |
XM_005266728.3:c.*309C>T | XP_005266785.1:n.*309C>T | |
XM_006722503.2:c.*309C>T | XP_006722566.1:n.*309C>T | |
XM_011526072.2:c.*309C>T | XP_011524374.1:n.*309C>T | |
XM_011526073.3:c.*309C>T | XP_011524375.1:n.*309C>T | |
NM_018235.3:c.*309C>T MANE Select | NP_060705.2:n.*309C>T | |
NM_001370248.1:c.*309C>T | NP_001357177.1:n.*309C>T | |
NM_001370249.1:c.*309C>T | NP_001357178.1:n.*309C>T | |
NM_001370250.1:c.*309C>T | NP_001357179.1:n.*309C>T | |
NM_001370254.1:c.*309C>T | NP_001357183.1:n.*309C>T | |
NM_001168499.2:c.*309C>T | NP_001161971.1:n.*309C>T |