HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132557C>T , CM000669.2:g.147132557C>T | GRCh38 |
NC_000007.13:g.146829649C>T , CM000669.1:g.146829649C>T | GRCh37 |
NC_000007.12:g.146460582C>T | NCBI36 |
NG_007092.2:g.1021197C>T | |
NG_007092.3:g.1021557C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1348+48C>T MANE Select | ENSP00000354778.3:n.1348+48C>T | |
ENST00000636561.1:n.1251+48C>T | ||
ENST00000636870.1:n.1210+48C>T | ||
ENST00000637150.1:n.1277+48C>T | ||
ENST00000637694.1:n.1251+48C>T | ||
ENST00000637825.1:n.831+48C>T | ||
ENST00000638117.1:n.1251+48C>T | ||
ENST00000361727.7:c.1348+48C>T | ENSP00000354778.3:n.1348+48C>T | |
NM_014141.5:c.1348+48C>T | NP_054860.1:n.1348+48C>T | |
XM_017011950.2:c.1348+48C>T | XP_016867439.1:n.1348+48C>T | |
NM_014141.6:c.1348+48C>T MANE Select | NP_054860.1:n.1348+48C>T |