Linked Data
ClinVar Variation Id:
1763772
ClinVar RCV Id:
RCV002414440
dbSNP Id:
rs752457399
ExAC:
15:48703271 T / C
gnomAD v2:
15-48703271-T-C
gnomAD v4:
15-48411074-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411074T>C , CM000677.2:g.48411074T>C | GRCh38 |
| NC_000015.9:g.48703271T>C , CM000677.1:g.48703271T>C | GRCh37 |
| NC_000015.8:g.46490563T>C | NCBI36 |
| NG_008805.2:g.239715A>G , LRG_778:g.239715A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1340A>G | ENSP00000453958.2:n.*1340A>G | |
| ENST00000682158.1:n.1913A>G | ||
| ENST00000682170.1:n.2713A>G | ||
| ENST00000682767.1:n.1829A>G | ||
| ENST00000316623.10:c.8532A>G MANE Select | ENSP00000325527.5:p.Gln2844= | |
| ENST00000316623.9:c.8532A>G | ENSP00000325527.5:p.Gln2844= | |
| ENST00000559133.5:c.3901A>G | ||
| NM_000138.4:c.8532A>G , LRG_778t1:c.8532A>G | NP_000129.3:p.Gln2844= | |
| NM_000138.5:c.8532A>G MANE Select | NP_000129.3:p.Gln2844= |