HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48303858T>G , CM000675.2:g.48303858T>G | GRCh38 |
NC_000013.10:g.48877994T>G , CM000675.1:g.48877994T>G | GRCh37 |
NC_000013.9:g.47775995T>G | NCBI36 |
NG_009009.1:g.5112T>G , LRG_517:g.5112T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.-55T>G MANE Select | ENSP00000267163.4:n.-55T>G | |
ENST00000646097.1:c.-55T>G | ENSP00000496556.1:n.-55T>G | |
ENST00000650461.1:c.-55T>G | ENSP00000497193.1:n.-55T>G | |
ENST00000267163.4:c.-55T>G | ENSP00000267163.4:n.-55T>G | |
ENST00000467505.5:c.-55T>G | ENSP00000434702.1:n.-55T>G | |
ENST00000525036.1:n.108T>G | ||
NM_000321.2:c.-55T>G , LRG_517t1:c.-55T>G | NP_000312.2:n.-55T>G | |
NM_000321.3:c.-55T>G MANE Select | NP_000312.2:n.-55T>G |