HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044129T>C , CM000674.2:g.5044129T>C | GRCh38 |
NC_000012.11:g.5153295T>C , CM000674.1:g.5153295T>C | GRCh37 |
NC_000012.10:g.5023556T>C | NCBI36 |
NG_012198.1:g.5211T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252321.5:c.-19T>C MANE Select | ENSP00000252321.3:n.-19T>C | |
ENST00000252321.4:c.-19T>C | ENSP00000252321.3:n.-19T>C | |
NM_002234.3:c.-19T>C | NP_002225.2:n.-19T>C | |
NM_002234.4:c.-19T>C MANE Select | NP_002225.2:n.-19T>C |