HGVS | Genome Assembly |
---|---|
NC_000011.10:g.72722342C>A , CM000673.2:g.72722342C>A | GRCh38 |
NC_000011.9:g.72433387C>A , CM000673.1:g.72433387C>A | GRCh37 |
NC_000011.8:g.72111035C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393609.8:c.509+4278G>T MANE Select | ENSP00000377233.3:n.509+4278G>T | |
ENST00000334211.12:c.-719G>T | ENSP00000335506.8:n.-719G>T | |
ENST00000359373.9:c.509+4278G>T | ENSP00000352332.5:n.509+4278G>T | |
ENST00000393609.7:c.509+4278G>T | ENSP00000377233.3:n.509+4278G>T | |
NM_001040118.2:c.509+4278G>T | NP_001035207.1:n.509+4278G>T | |
NM_001135190.1:c.-719G>T | NP_001128662.1:n.-719G>T | |
NM_015242.4:c.-719G>T | NP_056057.2:n.-719G>T | |
NM_001040118.3:c.509+4278G>T MANE Select | NP_001035207.1:n.509+4278G>T |