HGVS | Genome Assembly |
---|---|
NC_000007.14:g.142957836T>A , CM000669.2:g.142957836T>A | GRCh38 |
NC_000007.13:g.142654923T>A , CM000669.1:g.142654923T>A | GRCh37 |
NC_000007.12:g.142365045T>A | NCBI36 |
NG_007492.1:g.9581A>T | |
NG_007492.2:g.9581A>T | |
NG_007492.3:g.9581A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355265.7:c.663A>T MANE Select | ENSP00000347409.2:p.Pro221= | |
ENST00000467543.6:c.*515A>T | ENSP00000420011.2:n.*515A>T | |
ENST00000355265.6:c.663A>T | ENSP00000347409.2:p.Pro221= | |
ENST00000467543.5:c.606A>T | ENSP00000420011.1:p.Pro202= | |
ENST00000476829.5:c.525+468A>T | ENSP00000419889.1:n.525+468A>T | |
ENST00000479768.6:n.781A>T | ||
ENST00000494148.1:n.262A>T | ||
NM_000420.2:c.663A>T | NP_000411.1:p.Pro221= | |
XM_005249993.2:c.699A>T | XP_005250050.1:p.Pro233= | |
NM_000420.3:c.663A>T MANE Select | NP_000411.1:p.Pro221= |