HGVS | Genome Assembly |
---|---|
NC_000001.11:g.86862842C>T , CM000663.2:g.86862842C>T | GRCh38 |
NC_000001.10:g.87328525C>T , CM000663.1:g.87328525C>T | GRCh37 |
NC_000001.9:g.87101113C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331835.10:c.*632G>A MANE Select | ENSP00000328729.6:n.*632G>A | |
ENST00000648872.1:c.*847G>A | ENSP00000497584.1:n.*847G>A | |
ENST00000331835.9:c.*632G>A | ENSP00000328729.6:n.*632G>A | |
ENST00000370554.5:c.*705G>A | ENSP00000359585.2:n.*705G>A | |
ENST00000611507.4:c.*705G>A | ENSP00000481113.1:n.*705G>A | |
ENST00000616787.4:c.*632G>A | ENSP00000484190.1:n.*632G>A | |
NM_004261.3:c.*632G>A | NP_004252.2:n.*632G>A | |
NM_203341.1:c.*705G>A | NP_976086.1:n.*705G>A | |
NM_004261.4:c.*632G>A | NP_004252.2:n.*632G>A | |
NM_203341.2:c.*705G>A | NP_976086.1:n.*705G>A | |
NR_144512.1:n.1207G>A | ||
NR_144513.1:n.1191G>A | ||
NM_004261.5:c.*632G>A MANE Select | NP_004252.2:n.*632G>A | |
NM_203341.3:c.*705G>A | NP_976086.1:n.*705G>A |