HGVS | Genome Assembly |
---|---|
NC_000002.12:g.113062150C>T , CM000664.2:g.113062150C>T | GRCh38 |
NC_000002.11:g.113819727C>T , CM000664.1:g.113819727C>T | GRCh37 |
NC_000002.10:g.113536198C>T | NCBI36 |
NG_031864.1:g.8513C>T , LRG_730:g.8513C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000437409.2:c.142C>T | ENSP00000409262.2:p.Arg48Trp | |
ENST00000393200.7:c.142C>T MANE Select | ENSP00000376896.2:p.Arg48Trp | |
ENST00000346807.7:c.142C>T | ENSP00000259212.3:p.Arg48Trp | |
ENST00000393200.6:c.142C>T | ENSP00000376896.2:p.Arg48Trp | |
ENST00000437409.1:c.142C>T | ENSP00000409262.1:p.Arg48Trp | |
NM_012275.2:c.142C>T , LRG_730t2:c.142C>T | NP_036407.1:p.Arg48Trp | |
NM_173170.1:c.142C>T , LRG_730t1:c.142C>T | NP_775262.1:p.Arg48Trp | |
NM_012275.3:c.142C>T MANE Select | NP_036407.1:p.Arg48Trp |