Linked Data
ClinVar Variation Id:
197510
ClinVar RCV Id:
RCV000255827
RCV000666303
RCV000710348
RCV001074617
RCV001723753
RCV001842795
RCV004537468
dbSNP Id:
rs372347027
ExAC:
1:216040521 T / C
gnomAD v2:
1-216040521-T-C
gnomAD v3:
1-215867179-T-C
gnomAD v4:
1-215867179-T-C
ERepo:
CA275277/MONDO:0019501/005
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867179T>C , CM000663.2:g.215867179T>C | GRCh38 |
| NC_000001.10:g.216040521T>C , CM000663.1:g.216040521T>C | GRCh37 |
| NC_000001.9:g.214107144T>C | NCBI36 |
| NG_009497.1:g.561218A>G | |
| NG_009497.2:g.561270A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-9A>G MANE Select | ENSP00000305941.3:n.8682-9A>G | |
| ENST00000674083.1:c.8682-9A>G | ENSP00000501296.1:n.8682-9A>G | |
| ENST00000307340.7:c.8682-9A>G | ENSP00000305941.3:n.8682-9A>G | |
| NM_206933.2:c.8682-9A>G | NP_996816.2:n.8682-9A>G | |
| NM_206933.3:c.8682-9A>G | NP_996816.2:n.8682-9A>G | |
| NM_206933.4:c.8682-9A>G MANE Select | NP_996816.3:n.8682-9A>G |