HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39872867C>G , CM000679.2:g.39872867C>G | GRCh38 |
NC_000017.10:g.38029120C>G , CM000679.1:g.38029120C>G | GRCh37 |
NC_000017.9:g.35282646C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000348931.9:c.626-177C>G MANE Select | ENSP00000335384.5:n.626-177C>G | |
ENST00000348931.8:c.626-177C>G | ENSP00000335384.5:n.626-177C>G | |
ENST00000377940.3:c.560-177C>G | ENSP00000367174.3:n.560-177C>G | |
ENST00000583811.5:c.272-177C>G | ENSP00000462463.1:n.272-177C>G | |
ENST00000584588.5:c.407-177C>G | ENSP00000462067.1:n.407-177C>G | |
NM_198844.2:c.560-177C>G | NP_942141.2:n.560-177C>G | |
NM_199321.2:c.626-177C>G | NP_955353.1:n.626-177C>G | |
XM_011524298.1:c.626-177C>G | XP_011522600.1:n.626-177C>G | |
XR_002957959.1:n.817-177C>G | ||
NM_198844.3:c.560-177C>G | NP_942141.2:n.560-177C>G | |
NM_199321.3:c.626-177C>G MANE Select | NP_955353.1:n.626-177C>G |