HGVS | Genome Assembly |
---|---|
NC_000006.12:g.143463006A>G , CM000668.2:g.143463006A>G | GRCh38 |
NC_000006.11:g.143784143A>G , CM000668.1:g.143784143A>G | GRCh37 |
NC_000006.10:g.143825836A>G | NCBI36 |
NG_008459.1:g.17226A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367591.5:c.287+9A>G MANE Select | ENSP00000356563.4:n.287+9A>G | |
ENST00000367591.4:c.287+9A>G | ENSP00000356563.4:n.287+9A>G | |
ENST00000367592.5:c.155+9A>G | ENSP00000356564.1:n.155+9A>G | |
NM_003630.2:c.287+9A>G | NP_003621.1:n.287+9A>G | |
NM_003630.3:c.287+9A>G MANE Select | NP_003621.1:n.287+9A>G |