HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136057007G>T , CM000667.2:g.136057007G>T | GRCh38 |
NC_000005.9:g.135392696G>T , CM000667.1:g.135392696G>T | GRCh37 |
NC_000005.8:g.135420595G>T | NCBI36 |
NG_012646.1:g.33113G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442011.7:c.1678+212G>T MANE Select | ENSP00000416330.2:n.1678+212G>T | |
ENST00000442011.6:c.1678+212G>T | ENSP00000416330.2:n.1678+212G>T | |
ENST00000506699.5:n.2195+212G>T | ||
ENST00000507018.5:c.1656+212G>T | ||
ENST00000509485.5:c.675+212G>T | ||
ENST00000514242.5:n.449+212G>T | ||
ENST00000514554.5:c.830+212G>T | ||
NM_000358.2:c.1678+212G>T | NP_000349.1:n.1678+212G>T | |
NM_000358.3:c.1678+212G>T MANE Select | NP_000349.1:n.1678+212G>T |