HGVS | Genome Assembly |
---|---|
NC_000002.12:g.113062208G>T , CM000664.2:g.113062208G>T | GRCh38 |
NC_000002.11:g.113819785G>T , CM000664.1:g.113819785G>T | GRCh37 |
NC_000002.10:g.113536256G>T | NCBI36 |
NG_031864.1:g.8571G>T , LRG_730:g.8571G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000437409.2:c.200G>T | ENSP00000409262.2:p.Cys67Phe | |
ENST00000393200.7:c.200G>T MANE Select | ENSP00000376896.2:p.Cys67Phe | |
ENST00000346807.7:c.200G>T | ENSP00000259212.3:p.Cys67Phe | |
ENST00000393200.6:c.200G>T | ENSP00000376896.2:p.Cys67Phe | |
ENST00000437409.1:c.200G>T | ENSP00000409262.1:p.Cys67Phe | |
NM_012275.2:c.200G>T , LRG_730t2:c.200G>T | NP_036407.1:p.Cys67Phe | |
NM_173170.1:c.200G>T , LRG_730t1:c.200G>T | NP_775262.1:p.Cys67Phe | |
NM_012275.3:c.200G>T MANE Select | NP_036407.1:p.Cys67Phe |