HGVS | Genome Assembly |
---|---|
NC_000001.11:g.183218494T>G , CM000663.2:g.183218494T>G | GRCh38 |
NC_000001.10:g.183187629T>G , CM000663.1:g.183187629T>G | GRCh37 |
NC_000001.9:g.181454252T>G | NCBI36 |
NG_007079.2:g.37231T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264144.5:c.503+6T>G MANE Select | ENSP00000264144.4:n.503+6T>G | |
ENST00000264144.4:c.503+6T>G | ENSP00000264144.4:n.503+6T>G | |
ENST00000493293.5:c.503+6T>G | ENSP00000432063.1:n.503+6T>G | |
NM_005562.2:c.503+6T>G | NP_005553.2:n.503+6T>G | |
NM_018891.2:c.503+6T>G | NP_061486.2:n.503+6T>G | |
XM_017001273.2:c.503+6T>G | XP_016856762.1:n.503+6T>G | |
NM_005562.3:c.503+6T>G MANE Select | NP_005553.2:n.503+6T>G | |
NM_018891.3:c.503+6T>G | NP_061486.2:n.503+6T>G |