HGVS | Genome Assembly |
---|---|
NC_000016.10:g.22877928G>C , CM000678.2:g.22877928G>C | GRCh38 |
NC_000016.9:g.22889249G>C , CM000678.1:g.22889249G>C | GRCh37 |
NC_000016.8:g.22796750G>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261374.4:c.486-37016G>C MANE Select | ENSP00000261374.3:n.486-37016G>C | |
ENST00000261374.3:c.486-37016G>C | ENSP00000261374.3:n.486-37016G>C | |
ENST00000473392.1:c.*287+23147G>C | ENSP00000454505.1:n.*287+23147G>C | |
NM_006043.1:c.486-37016G>C | NP_006034.1:n.486-37016G>C | |
NM_006043.2:c.486-37016G>C MANE Select | NP_006034.1:n.486-37016G>C |