Linked Data
dbSNP Id:
rs142747979
gnomAD v2:
16-22889119-C-T
gnomAD v3:
16-22877798-C-T
gnomAD v4:
16-22877798-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.22877798C>T , CM000678.2:g.22877798C>T | GRCh38 |
| NC_000016.9:g.22889119C>T , CM000678.1:g.22889119C>T | GRCh37 |
| NC_000016.8:g.22796620C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261374.4:c.486-37146C>T MANE Select | ENSP00000261374.3:n.486-37146C>T | |
| ENST00000261374.3:c.486-37146C>T | ENSP00000261374.3:n.486-37146C>T | |
| ENST00000473392.1:c.*287+23017C>T | ENSP00000454505.1:n.*287+23017C>T | |
| NM_006043.1:c.486-37146C>T | NP_006034.1:n.486-37146C>T | |
| NM_006043.2:c.486-37146C>T MANE Select | NP_006034.1:n.486-37146C>T |