HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339605T>C , CM000669.2:g.17339605T>C | GRCh38 |
NC_000007.13:g.17379229T>C , CM000669.1:g.17379229T>C | GRCh37 |
NC_000007.12:g.17345754T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.1780T>C MANE Select | ENSP00000242057.4:p.Phe594Leu | |
ENST00000637807.1:c.1750T>C | ENSP00000490530.1:p.Phe584Leu | |
ENST00000642825.1:c.1735T>C | ENSP00000495987.1:p.Phe579Leu | |
ENST00000242057.8:c.1780T>C | ENSP00000242057.4:p.Phe594Leu | |
ENST00000463496.1:c.1780T>C | ENSP00000436466.1:p.Phe594Leu | |
NM_001621.4:c.1780T>C | NP_001612.1:p.Phe594Leu | |
NM_001621.5:c.1780T>C MANE Select | NP_001612.1:p.Phe594Leu |