HGVS | Genome Assembly |
---|---|
NC_000012.12:g.119187023A>T , CM000674.2:g.119187023A>T | GRCh38 |
NC_000012.11:g.119624828A>T , CM000674.1:g.119624828A>T | GRCh37 |
NC_000012.10:g.118109211A>T | NCBI36 |
NG_007953.2:g.13234A>T , LRG_249:g.13234A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281938.7:c.368-2A>T MANE Select | ENSP00000281938.3:n.368-2A>T | |
ENST00000674542.1:c.368-6676A>T | ENSP00000502352.1:n.368-6676A>T | |
ENST00000674715.1:n.541-2A>T | ||
ENST00000675900.1:n.21+4987A>T | ||
ENST00000676071.1:n.101-2A>T | ||
ENST00000676244.1:n.74-2A>T | ||
ENST00000281938.6:c.368-2A>T | ENSP00000281938.2:n.368-2A>T | |
ENST00000541798.1:c.91-2A>T | ||
ENST00000542496.1:n.224A>T | ||
NM_014365.2:c.368-2A>T , LRG_249t1:c.368-2A>T | NP_055180.1:n.368-2A>T | |
NM_014365.3:c.368-2A>T MANE Select | NP_055180.1:n.368-2A>T |