HGVS | Genome Assembly |
---|---|
NC_000004.12:g.71030650G>A , CM000666.2:g.71030650G>A | GRCh38 |
NC_000004.11:g.71896367G>A , CM000666.1:g.71896367G>A | GRCh37 |
NC_000004.10:g.72115231G>A | NCBI36 |
NG_023303.1:g.42103G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286648.10:c.*1272G>A MANE Select | ENSP00000286648.5:n.*1272G>A | |
ENST00000286648.9:c.*1272G>A | ENSP00000286648.5:n.*1272G>A | |
ENST00000503359.5:c.*1999G>A | ENSP00000426389.1:n.*1999G>A | |
ENST00000504730.5:c.*1339G>A | ENSP00000425578.1:n.*1339G>A | |
ENST00000504952.1:c.*1198G>A | ENSP00000421508.1:n.*1198G>A | |
NM_000788.2:c.*1272G>A | NP_000779.1:n.*1272G>A | |
NM_000788.3:c.*1272G>A MANE Select | NP_000779.1:n.*1272G>A |