HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136055673T>C , CM000667.2:g.136055673T>C | GRCh38 |
NC_000005.9:g.135391362T>C , CM000667.1:g.135391362T>C | GRCh37 |
NC_000005.8:g.135419261T>C | NCBI36 |
NG_012646.1:g.31779T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000442011.7:c.1411-7T>C MANE Select | ENSP00000416330.2:n.1411-7T>C | |
ENST00000442011.6:c.1411-7T>C | ENSP00000416330.2:n.1411-7T>C | |
ENST00000506699.5:n.1928-7T>C | ||
ENST00000507018.5:c.1389-7T>C | ||
ENST00000509485.5:c.326-7T>C | ||
ENST00000514242.5:n.175T>C | ||
ENST00000514554.5:c.563-7T>C | ||
NM_000358.2:c.1411-7T>C | NP_000349.1:n.1411-7T>C | |
NM_000358.3:c.1411-7T>C MANE Select | NP_000349.1:n.1411-7T>C |