HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339850T>C , CM000669.2:g.17339850T>C | GRCh38 |
NC_000007.13:g.17379474T>C , CM000669.1:g.17379474T>C | GRCh37 |
NC_000007.12:g.17345999T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.2025T>C MANE Select | ENSP00000242057.4:p.Phe675= | |
ENST00000637807.1:c.1995T>C | ENSP00000490530.1:p.Phe665= | |
ENST00000642825.1:c.1980T>C | ENSP00000495987.1:p.Phe660= | |
ENST00000242057.8:c.2025T>C | ENSP00000242057.4:p.Phe675= | |
ENST00000463496.1:c.2025T>C | ENSP00000436466.1:p.Phe675= | |
NM_001621.4:c.2025T>C | NP_001612.1:p.Phe675= | |
NM_001621.5:c.2025T>C MANE Select | NP_001612.1:p.Phe675= |