Linked Data
ClinVar Variation Id:
161236
dbSNP Id:
rs376933421
ExAC:
15:48703309 T / C
gnomAD v2:
15-48703309-T-C
gnomAD v3:
15-48411112-T-C
gnomAD v4:
15-48411112-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411112T>C , CM000677.2:g.48411112T>C | GRCh38 |
| NC_000015.9:g.48703309T>C , CM000677.1:g.48703309T>C | GRCh37 |
| NC_000015.8:g.46490601T>C | NCBI36 |
| NG_008805.2:g.239677A>G , LRG_778:g.239677A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1302A>G | ENSP00000453958.2:n.*1302A>G | |
| ENST00000674301.2:c.*2007A>G | ENSP00000501333.2:n.*2007A>G | |
| ENST00000682158.1:n.1875A>G | ||
| ENST00000682170.1:n.2675A>G | ||
| ENST00000682767.1:n.1791A>G | ||
| ENST00000316623.10:c.8494A>G MANE Select | ENSP00000325527.5:p.Ser2832Gly | |
| ENST00000674301.1:c.3660A>G | ENSP00000501333.1:n.3660A>G | |
| ENST00000316623.9:c.8494A>G | ENSP00000325527.5:p.Ser2832Gly | |
| ENST00000559133.5:c.3863A>G | ||
| NM_000138.4:c.8494A>G , LRG_778t1:c.8494A>G | NP_000129.3:p.Ser2832Gly | |
| NM_000138.5:c.8494A>G MANE Select | NP_000129.3:p.Ser2832Gly |