Linked Data
ClinVar Variation Id:
1562665
ClinVar RCV Id:
RCV002204961
dbSNP Id:
rs747320277
ExAC:
11:118183317 C / T
gnomAD v2:
11-118183317-C-T
gnomAD v3:
11-118312602-C-T
gnomAD v4:
11-118312602-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312602C>T , CM000673.2:g.118312602C>T | GRCh38 |
| NC_000011.9:g.118183317C>T , CM000673.1:g.118183317C>T | GRCh37 |
| NC_000011.8:g.117688527C>T | NCBI36 |
| NG_007383.1:g.13023C>T , LRG_38:g.13023C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.104-16C>T MANE Select | ENSP00000354566.4:n.104-16C>T | |
| ENST00000361763.8:c.104-16C>T | ENSP00000354566.4:n.104-16C>T | |
| ENST00000526146.5:n.634C>T | ||
| ENST00000528435.5:n.641C>T | ||
| ENST00000528600.1:c.86-16C>T | ENSP00000433975.1:n.86-16C>T | |
| ENST00000529713.5:n.210-16C>T | ||
| ENST00000531913.1:n.459C>T | ||
| NM_000733.3:c.104-16C>T , LRG_38t1:c.104-16C>T | NP_000724.1:n.104-16C>T | |
| NM_000733.4:c.104-16C>T MANE Select | NP_000724.1:n.104-16C>T |