HGVS | Genome Assembly |
---|---|
NC_000005.10:g.179127953C>T , CM000667.2:g.179127953C>T | GRCh38 |
NC_000005.9:g.178554954C>T , CM000667.1:g.178554954C>T | GRCh37 |
NC_000005.8:g.178487560C>T | NCBI36 |
NG_023212.2:g.222376G>A | |
NG_023212.3:g.222376G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698889.1:c.2617+6G>A | ENSP00000514008.1:n.2617+6G>A | |
ENST00000251582.12:c.2617+6G>A MANE Select | ENSP00000251582.7:n.2617+6G>A | |
ENST00000518335.3:c.2617+6G>A | ENSP00000489888.2:n.2617+6G>A | |
ENST00000251582.11:c.2617+6G>A | ENSP00000251582.7:n.2617+6G>A | |
NM_014244.4:c.2617+6G>A | NP_055059.2:n.2617+6G>A | |
NM_014244.5:c.2617+6G>A MANE Select | NP_055059.2:n.2617+6G>A |