Linked Data
dbSNP Id:
rs945349816
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.22877742T>C , CM000678.2:g.22877742T>C | GRCh38 |
| NC_000016.9:g.22889063T>C , CM000678.1:g.22889063T>C | GRCh37 |
| NC_000016.8:g.22796564T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261374.4:c.486-37202T>C MANE Select | ENSP00000261374.3:n.486-37202T>C | |
| ENST00000261374.3:c.486-37202T>C | ENSP00000261374.3:n.486-37202T>C | |
| ENST00000473392.1:c.*287+22961T>C | ENSP00000454505.1:n.*287+22961T>C | |
| NM_006043.1:c.486-37202T>C | NP_006034.1:n.486-37202T>C | |
| NM_006043.2:c.486-37202T>C MANE Select | NP_006034.1:n.486-37202T>C |