Linked Data
ClinVar Variation Id:
2172253
ClinVar RCV Id:
RCV003087332
dbSNP Id:
rs1490859586
gnomAD v2:
15-48782173-G-A
gnomAD v3:
15-48489976-G-A
gnomAD v4:
15-48489976-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48489976G>A , CM000677.2:g.48489976G>A | GRCh38 |
| NC_000015.9:g.48782173G>A , CM000677.1:g.48782173G>A | GRCh37 |
| NC_000015.8:g.46569465G>A | NCBI36 |
| NG_008805.2:g.160813C>T , LRG_778:g.160813C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.2957C>T | ENSP00000453958.2:p.Ala986Val | |
| ENST00000674301.2:c.2957C>T | ENSP00000501333.2:p.Ala986Val | |
| ENST00000684448.1:n.1631C>T | ||
| ENST00000316623.10:c.2957C>T MANE Select | ENSP00000325527.5:p.Ala986Val | |
| ENST00000316623.9:c.2957C>T | ENSP00000325527.5:p.Ala986Val | |
| ENST00000537463.6:c.637-15326C>T | ENSP00000440294.2:n.637-15326C>T | |
| NM_000138.4:c.2957C>T , LRG_778t1:c.2957C>T | NP_000129.3:p.Ala986Val | |
| NM_000138.5:c.2957C>T MANE Select | NP_000129.3:p.Ala986Val |