HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160130304A>G , CM000663.2:g.160130304A>G | GRCh38 |
NC_000001.10:g.160100094A>G , CM000663.1:g.160100094A>G | GRCh37 |
NC_000001.9:g.158366718A>G | NCBI36 |
NG_008014.1:g.19547A>G , LRG_6:g.19547A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361216.8:c.1651+13A>G MANE Select | ENSP00000354490.3:n.1651+13A>G | |
ENST00000361216.7:c.1651+13A>G | ENSP00000354490.3:n.1651+13A>G | |
ENST00000392233.7:c.1651+13A>G | ENSP00000376066.3:n.1651+13A>G | |
ENST00000447527.1:c.783+13A>G | ||
ENST00000472488.5:n.1754+13A>G | ||
NM_000702.3:c.1651+13A>G | NP_000693.1:n.1651+13A>G | |
NM_000702.4:c.1651+13A>G MANE Select | NP_000693.1:n.1651+13A>G |