HGVS | Genome Assembly |
---|---|
NC_000002.12:g.113062222G>T , CM000664.2:g.113062222G>T | GRCh38 |
NC_000002.11:g.113819799G>T , CM000664.1:g.113819799G>T | GRCh37 |
NC_000002.10:g.113536270G>T | NCBI36 |
NG_031864.1:g.8585G>T , LRG_730:g.8585G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000437409.2:c.214G>T | ENSP00000409262.2:p.Val72Leu | |
ENST00000393200.7:c.214G>T MANE Select | ENSP00000376896.2:p.Val72Leu | |
ENST00000346807.7:c.214G>T | ENSP00000259212.3:p.Val72Leu | |
ENST00000393200.6:c.214G>T | ENSP00000376896.2:p.Val72Leu | |
ENST00000437409.1:c.214G>T | ENSP00000409262.1:p.Val72Leu | |
NM_012275.2:c.214G>T , LRG_730t2:c.214G>T | NP_036407.1:p.Val72Leu | |
NM_173170.1:c.214G>T , LRG_730t1:c.214G>T | NP_775262.1:p.Val72Leu | |
NM_012275.3:c.214G>T MANE Select | NP_036407.1:p.Val72Leu |