HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339856C= , CM000669.2:g.17339856C= | GRCh38 |
NC_000007.13:g.17379480C= , CM000669.1:g.17379480C= | GRCh37 |
NC_000007.12:g.17346005C= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.2031C= MANE Select | ENSP00000242057.4:p.Asp677= | |
ENST00000637807.1:c.2001C= | ENSP00000490530.1:p.Asp667= | |
ENST00000642825.1:c.1986C= | ENSP00000495987.1:p.Asp662= | |
ENST00000242057.8:c.2031C= | ENSP00000242057.4:p.Asp677= | |
ENST00000463496.1:c.2031C= | ENSP00000436466.1:p.Asp677= | |
NM_001621.4:c.2031C= | NP_001612.1:p.Asp677= | |
NM_001621.5:c.2031C= MANE Select | NP_001612.1:p.Asp677= |