HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339847C= , CM000669.2:g.17339847C= | GRCh38 |
NC_000007.13:g.17379471C= , CM000669.1:g.17379471C= | GRCh37 |
NC_000007.12:g.17345996C= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.2022C= MANE Select | ENSP00000242057.4:p.Val674= | |
ENST00000637807.1:c.1992C= | ENSP00000490530.1:p.Val664= | |
ENST00000642825.1:c.1977C= | ENSP00000495987.1:p.Val659= | |
ENST00000242057.8:c.2022C= | ENSP00000242057.4:p.Val674= | |
ENST00000463496.1:c.2022C= | ENSP00000436466.1:p.Val674= | |
NM_001621.4:c.2022C= | NP_001612.1:p.Val674= | |
NM_001621.5:c.2022C= MANE Select | NP_001612.1:p.Val674= |