HGVS | Genome Assembly |
---|---|
NC_000015.10:g.96332356A>T , CM000677.2:g.96332356A>T | GRCh38 |
NC_000015.9:g.96875585A>T , CM000677.1:g.96875585A>T | GRCh37 |
NC_000015.8:g.94676589A>T | NCBI36 |
NG_016753.1:g.11429A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000394166.8:c.251A>T MANE Select | ENSP00000377721.3:p.Asp84Val | |
ENST00000394166.7:c.251A>T | ENSP00000377721.3:p.Asp84Val | |
ENST00000421109.6:c.44-1720A>T | ENSP00000401674.2:n.44-1720A>T | |
NM_001145155.1:c.44-1720A>T | NP_001138627.1:n.44-1720A>T | |
NM_021005.3:c.251A>T | NP_066285.1:p.Asp84Val | |
NM_021005.4:c.251A>T MANE Select | NP_066285.1:p.Asp84Val | |
NM_001145155.2:c.44-1720A>T | NP_001138627.1:n.44-1720A>T |