HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739391C>G , CM000674.2:g.120739391C>G | GRCh38 |
NC_000012.11:g.121177194C>G , CM000674.1:g.121177194C>G | GRCh37 |
NC_000012.10:g.119661577C>G | NCBI36 |
NG_007991.1:g.18624C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.1182C>G MANE Select | ENSP00000242592.4:p.Thr394= | |
ENST00000242592.8:c.1182C>G | ENSP00000242592.4:p.Thr394= | |
ENST00000411593.2:c.1170C>G | ENSP00000401045.2:p.Thr390= | |
NM_000017.3:c.1182C>G | NP_000008.1:p.Thr394= | |
NM_001302554.1:c.1170C>G | NP_001289483.1:p.Thr390= | |
NM_000017.4:c.1182C>G MANE Select | NP_000008.1:p.Thr394= | |
NM_001302554.2:c.1170C>G | NP_001289483.1:p.Thr390= |