HGVS | Genome Assembly |
---|---|
NC_000001.11:g.86863156G>A , CM000663.2:g.86863156G>A | GRCh38 |
NC_000001.10:g.87328839G>A , CM000663.1:g.87328839G>A | GRCh37 |
NC_000001.9:g.87101427G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331835.10:c.*318C>T MANE Select | ENSP00000328729.6:n.*318C>T | |
ENST00000648872.1:c.*533C>T | ENSP00000497584.1:n.*533C>T | |
ENST00000331835.9:c.*318C>T | ENSP00000328729.6:n.*318C>T | |
ENST00000370554.5:c.*391C>T | ENSP00000359585.2:n.*391C>T | |
ENST00000611507.4:c.*391C>T | ENSP00000481113.1:n.*391C>T | |
ENST00000616787.4:c.*318C>T | ENSP00000484190.1:n.*318C>T | |
NM_004261.3:c.*318C>T | NP_004252.2:n.*318C>T | |
NM_203341.1:c.*391C>T | NP_976086.1:n.*391C>T | |
NM_004261.4:c.*318C>T | NP_004252.2:n.*318C>T | |
NM_203341.2:c.*391C>T | NP_976086.1:n.*391C>T | |
NR_144512.1:n.893C>T | ||
NR_144513.1:n.877C>T | ||
NM_004261.5:c.*318C>T MANE Select | NP_004252.2:n.*318C>T | |
NM_203341.3:c.*391C>T | NP_976086.1:n.*391C>T |