Linked Data
ClinVar Variation Id:
527151
ClinVar RCV Id:
RCV000631920
dbSNP Id:
rs140592
gnomAD v2:
15-48782144-A-G
gnomAD v3:
15-48489947-A-G
gnomAD v4:
15-48489947-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48489947A>G , CM000677.2:g.48489947A>G | GRCh38 |
| NC_000015.9:g.48782144A>G , CM000677.1:g.48782144A>G | GRCh37 |
| NC_000015.8:g.46569436A>G | NCBI36 |
| NG_008805.2:g.160842T>C , LRG_778:g.160842T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.2986T>C | ENSP00000453958.2:p.Cys996Arg | |
| ENST00000674301.2:c.2986T>C | ENSP00000501333.2:p.Cys996Arg | |
| ENST00000684448.1:n.1660T>C | ||
| ENST00000316623.10:c.2986T>C MANE Select | ENSP00000325527.5:p.Cys996Arg | |
| ENST00000316623.9:c.2986T>C | ENSP00000325527.5:p.Cys996Arg | |
| ENST00000537463.6:c.637-15297T>C | ENSP00000440294.2:n.637-15297T>C | |
| NM_000138.4:c.2986T>C , LRG_778t1:c.2986T>C | NP_000129.3:p.Cys996Arg | |
| NM_000138.5:c.2986T>C MANE Select | NP_000129.3:p.Cys996Arg |