Linked Data
ClinVar Variation Id:
200124
dbSNP Id:
rs763173031
ExAC:
15:48707790 T / C
gnomAD v2:
15-48707790-T-C
gnomAD v4:
15-48415593-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48415593T>C , CM000677.2:g.48415593T>C | GRCh38 |
| NC_000015.9:g.48707790T>C , CM000677.1:g.48707790T>C | GRCh37 |
| NC_000015.8:g.46495082T>C | NCBI36 |
| NG_008805.2:g.235196A>G , LRG_778:g.235196A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.*802A>G | ENSP00000453958.2:n.*802A>G | |
| ENST00000674301.2:c.*1507A>G | ENSP00000501333.2:n.*1507A>G | |
| ENST00000682158.1:n.1375A>G | ||
| ENST00000682170.1:n.2175A>G | ||
| ENST00000682767.1:n.1291A>G | ||
| ENST00000316623.10:c.7994A>G MANE Select | ENSP00000325527.5:p.Asn2665Ser | |
| ENST00000674301.1:c.3160A>G | ENSP00000501333.1:n.3160A>G | |
| ENST00000316623.9:c.7994A>G | ENSP00000325527.5:p.Asn2665Ser | |
| ENST00000559133.5:c.3363A>G | ||
| ENST00000561429.1:n.249A>G | ||
| NM_000138.4:c.7994A>G , LRG_778t1:c.7994A>G | NP_000129.3:p.Asn2665Ser | |
| NM_000138.5:c.7994A>G MANE Select | NP_000129.3:p.Asn2665Ser |