HGVS | Genome Assembly |
---|---|
NC_000011.10:g.72721940G>A , CM000673.2:g.72721940G>A | GRCh38 |
NC_000011.9:g.72432985G>A , CM000673.1:g.72432985G>A | GRCh37 |
NC_000011.8:g.72110633G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393609.8:c.509+4680C>T MANE Select | ENSP00000377233.3:n.509+4680C>T | |
ENST00000334211.12:c.-317C>T | ENSP00000335506.8:n.-317C>T | |
ENST00000359373.9:c.509+4680C>T | ENSP00000352332.5:n.509+4680C>T | |
ENST00000393609.7:c.509+4680C>T | ENSP00000377233.3:n.509+4680C>T | |
ENST00000426523.5:c.-317C>T | ENSP00000392264.1:n.-317C>T | |
ENST00000429686.5:c.-317C>T | ENSP00000403127.1:n.-317C>T | |
ENST00000465814.5:n.149C>T | ||
NM_001040118.2:c.509+4680C>T | NP_001035207.1:n.509+4680C>T | |
NM_001135190.1:c.-317C>T | NP_001128662.1:n.-317C>T | |
NM_015242.4:c.-317C>T | NP_056057.2:n.-317C>T | |
NM_001369489.1:c.-317C>T | NP_001356418.1:n.-317C>T | |
NR_161388.1:n.401C>T | ||
NM_001040118.3:c.509+4680C>T MANE Select | NP_001035207.1:n.509+4680C>T | |
NM_001135190.2:c.-317C>T | NP_001128662.1:n.-317C>T | |
NM_015242.5:c.-317C>T | NP_056057.2:n.-317C>T |