Linked Data
ClinVar Variation Id:
3070143
ClinVar RCV Id:
RCV004010175
dbSNP Id:
rs143007898
ExAC:
15:48703440 G / C
gnomAD v2:
15-48703440-G-C
gnomAD v4:
15-48411243-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411243G>C , CM000677.2:g.48411243G>C | GRCh38 |
| NC_000015.9:g.48703440G>C , CM000677.1:g.48703440G>C | GRCh37 |
| NC_000015.8:g.46490732G>C | NCBI36 |
| NG_008805.2:g.239546C>G , LRG_778:g.239546C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1171C>G | ENSP00000453958.2:n.*1171C>G | |
| ENST00000674301.2:c.*1876C>G | ENSP00000501333.2:n.*1876C>G | |
| ENST00000682158.1:n.1744C>G | ||
| ENST00000682170.1:n.2544C>G | ||
| ENST00000682767.1:n.1660C>G | ||
| ENST00000316623.10:c.8363C>G MANE Select | ENSP00000325527.5:p.Thr2788Arg | |
| ENST00000674301.1:c.3529C>G | ENSP00000501333.1:n.3529C>G | |
| ENST00000316623.9:c.8363C>G | ENSP00000325527.5:p.Thr2788Arg | |
| ENST00000559133.5:c.3732C>G | ||
| ENST00000561429.1:n.618C>G | ||
| NM_000138.4:c.8363C>G , LRG_778t1:c.8363C>G | NP_000129.3:p.Thr2788Arg | |
| NM_000138.5:c.8363C>G MANE Select | NP_000129.3:p.Thr2788Arg |