Linked Data
ClinVar Variation Id:
196288
dbSNP Id:
rs191313794
ExAC:
2:219677148 C / T
gnomAD v2:
2-219677148-C-T
gnomAD v3:
2-218812425-C-T
gnomAD v4:
2-218812425-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812425C>T , CM000664.2:g.218812425C>T | GRCh38 |
| NC_000002.11:g.219677148C>T , CM000664.1:g.219677148C>T | GRCh37 |
| NC_000002.10:g.219385392C>T | NCBI36 |
| NG_007959.1:g.35677C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.646+4C>T MANE Select | ENSP00000258415.4:n.646+4C>T | |
| ENST00000258415.8:c.646+4C>T | ENSP00000258415.4:n.646+4C>T | |
| ENST00000411688.1:c.364+4C>T | ENSP00000392671.1:n.364+4C>T | |
| ENST00000445971.1:c.*107+4C>T | ENSP00000404945.1:n.*107+4C>T | |
| ENST00000466602.1:n.468C>T | ||
| ENST00000494263.5:n.1080+4C>T | ||
| NM_000784.3:c.646+4C>T | NP_000775.1:n.646+4C>T | |
| XM_017003488.2:c.226+4C>T | XP_016858977.1:n.226+4C>T | |
| NM_000784.4:c.646+4C>T MANE Select | NP_000775.1:n.646+4C>T |