HGVS | Genome Assembly |
---|---|
NC_000010.11:g.30623101G>T , CM000672.2:g.30623101G>T | GRCh38 |
NC_000010.10:g.30912030G>T , CM000672.1:g.30912030G>T | GRCh37 |
NC_000010.9:g.30952036G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375318.4:c.436+3004C>A | ENSP00000364467.2:n.436+3004C>A | |
ENST00000647634.2:c.298+3004C>A MANE Select | ENSP00000497408.1:n.298+3004C>A | |
ENST00000375318.3:c.436+3004C>A | ENSP00000364467.2:n.436+3004C>A | |
NM_183058.2:c.436+3004C>A | NP_898881.2:n.436+3004C>A | |
XM_011519306.1:c.436+3004C>A | XP_011517608.1:n.436+3004C>A | |
XR_930469.1:n.493+3004C>A | ||
NM_183058.3:c.298+3004C>A MANE Select | NP_898881.3:n.298+3004C>A | |
XM_011519306.2:c.436+3004C>A | XP_011517608.1:n.436+3004C>A | |
XR_930469.2:n.492+3004C>A |