HGVS | Genome Assembly |
---|---|
NC_000013.11:g.110179159G>T , CM000675.2:g.110179159G>T | GRCh38 |
NC_000013.10:g.110831506G>T , CM000675.1:g.110831506G>T | GRCh37 |
NC_000013.9:g.109629507G>T | NCBI36 |
NG_011544.2:g.132991C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375820.10:c.2344+112C>A MANE Select | ENSP00000364979.4:n.2344+112C>A | |
ENST00000649738.1:n.2474+112C>A | ||
ENST00000375820.8:c.2344+112C>A | ENSP00000364979.4:n.2344+112C>A | |
NM_001845.5:c.2344+112C>A | NP_001836.3:n.2344+112C>A | |
XM_011521048.1:c.2152+112C>A | XP_011519350.1:n.2152+112C>A | |
XM_011521048.2:c.2152+112C>A | XP_011519350.1:n.2152+112C>A | |
NM_001845.6:c.2344+112C>A MANE Select | NP_001836.3:n.2344+112C>A |