HGVS | Genome Assembly |
---|---|
NC_000003.12:g.47657937C>T , CM000665.2:g.47657937C>T | GRCh38 |
NC_000003.11:g.47699427C>T , CM000665.1:g.47699427C>T | GRCh37 |
NC_000003.10:g.47674431C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000254480.10:c.2320+3357G>A MANE Select | ENSP00000254480.5:n.2320+3357G>A | |
ENST00000254480.9:c.2320+3357G>A | ENSP00000254480.5:n.2320+3357G>A | |
ENST00000425518.5:n.2210+3357G>A | ||
NM_003074.3:c.2320+3357G>A | NP_003065.3:n.2320+3357G>A | |
XM_011534034.1:c.1993+3357G>A | XP_011532336.1:n.1993+3357G>A | |
XR_001740239.1:n.2573+621G>A | ||
NM_003074.4:c.2320+3357G>A MANE Select | NP_003065.3:n.2320+3357G>A |