HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136056658T>C , CM000667.2:g.136056658T>C | GRCh38 |
NC_000005.9:g.135392347T>C , CM000667.1:g.135392347T>C | GRCh37 |
NC_000005.8:g.135420246T>C | NCBI36 |
NG_012646.1:g.32764T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442011.7:c.1548-7T>C MANE Select | ENSP00000416330.2:n.1548-7T>C | |
ENST00000442011.6:c.1548-7T>C | ENSP00000416330.2:n.1548-7T>C | |
ENST00000506699.5:n.2065-7T>C | ||
ENST00000507018.5:c.1526-7T>C | ||
ENST00000509485.5:c.545-7T>C | ||
ENST00000514242.5:n.319-7T>C | ||
ENST00000514554.5:c.700-7T>C | ||
NM_000358.2:c.1548-7T>C | NP_000349.1:n.1548-7T>C | |
NM_000358.3:c.1548-7T>C MANE Select | NP_000349.1:n.1548-7T>C |