HGVS | Genome Assembly |
---|---|
NC_000012.12:g.119187021C>G , CM000674.2:g.119187021C>G | GRCh38 |
NC_000012.11:g.119624826C>G , CM000674.1:g.119624826C>G | GRCh37 |
NC_000012.10:g.118109209C>G | NCBI36 |
NG_007953.2:g.13232C>G , LRG_249:g.13232C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000281938.7:c.368-4C>G MANE Select | ENSP00000281938.3:n.368-4C>G | |
ENST00000674542.1:c.368-6678C>G | ENSP00000502352.1:n.368-6678C>G | |
ENST00000674715.1:n.541-4C>G | ||
ENST00000675900.1:n.21+4985C>G | ||
ENST00000676071.1:n.101-4C>G | ||
ENST00000676244.1:n.74-4C>G | ||
ENST00000281938.6:c.368-4C>G | ENSP00000281938.2:n.368-4C>G | |
ENST00000541798.1:c.91-4C>G | ||
ENST00000542496.1:n.222C>G | ||
NM_014365.2:c.368-4C>G , LRG_249t1:c.368-4C>G | NP_055180.1:n.368-4C>G | |
NM_014365.3:c.368-4C>G MANE Select | NP_055180.1:n.368-4C>G |