HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136055574C>T , CM000667.2:g.136055574C>T | GRCh38 |
NC_000005.9:g.135391263C>T , CM000667.1:g.135391263C>T | GRCh37 |
NC_000005.8:g.135419162C>T | NCBI36 |
NG_012646.1:g.31680C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442011.7:c.1411-106C>T MANE Select | ENSP00000416330.2:n.1411-106C>T | |
ENST00000442011.6:c.1411-106C>T | ENSP00000416330.2:n.1411-106C>T | |
ENST00000506699.5:n.1928-106C>T | ||
ENST00000507018.5:c.1389-106C>T | ||
ENST00000509485.5:c.326-106C>T | ||
ENST00000514242.5:n.76C>T | ||
ENST00000514554.5:c.563-106C>T | ||
NM_000358.2:c.1411-106C>T | NP_000349.1:n.1411-106C>T | |
NM_000358.3:c.1411-106C>T MANE Select | NP_000349.1:n.1411-106C>T |