HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112830648G>T , CM000664.2:g.112830648G>T | GRCh38 |
NC_000002.11:g.113588225G>T , CM000664.1:g.113588225G>T | GRCh37 |
NC_000002.10:g.113304696G>T | NCBI36 |
NG_008851.1:g.11132C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263341.7:c.598-75C>A MANE Select | ENSP00000263341.2:n.598-75C>A | |
ENST00000263341.6:c.598-75C>A | ENSP00000263341.2:n.598-75C>A | |
ENST00000491056.5:n.1405-75C>A | ||
NM_000576.2:c.598-75C>A | NP_000567.1:n.598-75C>A | |
XM_006712496.1:c.364-75C>A | XP_006712559.1:n.364-75C>A | |
XM_017003988.2:c.505-75C>A | XP_016859477.1:n.505-75C>A | |
NM_000576.3:c.598-75C>A MANE Select | NP_000567.1:n.598-75C>A |