HGVS | Genome Assembly |
---|---|
NC_000001.11:g.109923716C>A , CM000663.2:g.109923716C>A | GRCh38 |
NC_000001.10:g.110466338C>A , CM000663.1:g.110466338C>A | GRCh37 |
NC_000001.9:g.110267861C>A | NCBI36 |
NG_030008.1:g.18106C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329608.11:c.1095C>A MANE Select | ENSP00000327513.6:p.Thr365= | |
ENST00000329608.10:c.1095C>A | ENSP00000327513.6:p.Thr365= | |
ENST00000369801.1:c.1090+5C>A | ENSP00000358816.1:n.1090+5C>A | |
ENST00000369802.7:c.1095C>A | ENSP00000358817.3:p.Thr365= | |
ENST00000420111.6:c.545-344C>A | ENSP00000407317.2:n.545-344C>A | |
NM_000757.5:c.1095C>A | NP_000748.3:p.Thr365= | |
NM_172210.2:c.1090+5C>A | NP_757349.1:n.1090+5C>A | |
NM_172211.3:c.545-344C>A | NP_757350.1:n.545-344C>A | |
NM_172212.2:c.1095C>A | NP_757351.1:p.Thr365= | |
XM_017000369.1:c.972C>A | XP_016855858.1:p.Thr324= | |
NM_000757.6:c.1095C>A MANE Select | NP_000748.4:p.Thr365= | |
NM_172210.3:c.1090+5C>A | NP_757349.2:n.1090+5C>A | |
NM_172211.4:c.545-344C>A | NP_757350.2:n.545-344C>A | |
NM_172212.3:c.1095C>A | NP_757351.2:p.Thr365= |