HGVS | Genome Assembly |
---|---|
NC_000012.12:g.119193689T>A , CM000674.2:g.119193689T>A | GRCh38 |
NC_000012.11:g.119631494T>A , CM000674.1:g.119631494T>A | GRCh37 |
NC_000012.10:g.118115877T>A | NCBI36 |
NG_007953.2:g.19900T>A , LRG_249:g.19900T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281938.7:c.432-10T>A MANE Select | ENSP00000281938.3:n.432-10T>A | |
ENST00000674542.1:c.368-10T>A | ENSP00000502352.1:n.368-10T>A | |
ENST00000674715.1:n.605-10T>A | ||
ENST00000674763.1:c.137-10T>A | ||
ENST00000674852.1:c.64+6601T>A | ||
ENST00000675110.1:c.178-10T>A | ||
ENST00000675211.1:c.195-10T>A | ||
ENST00000675573.1:c.64+6601T>A | ||
ENST00000675900.1:n.22-23T>A | ||
ENST00000676071.1:n.165-10T>A | ||
ENST00000676244.1:n.138-10T>A | ||
ENST00000281938.6:c.432-10T>A | ENSP00000281938.2:n.432-10T>A | |
ENST00000541798.1:c.154+6601T>A | ||
ENST00000542496.1:n.290-10T>A | ||
NM_014365.2:c.432-10T>A , LRG_249t1:c.432-10T>A | NP_055180.1:n.432-10T>A | |
NM_014365.3:c.432-10T>A MANE Select | NP_055180.1:n.432-10T>A |