Linked Data
ClinVar Variation Id:
135429
dbSNP Id:
rs138379977
ExAC:
8:30998964 G / A
gnomAD v2:
8-30998964-G-A
gnomAD v3:
8-31141448-G-A
gnomAD v4:
8-31141448-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31141448G>A , CM000670.2:g.31141448G>A | GRCh38 |
| NC_000008.10:g.30998964G>A , CM000670.1:g.30998964G>A | GRCh37 |
| NC_000008.9:g.31118506G>A | NCBI36 |
| NG_008870.1:g.113187G>A , LRG_524:g.113187G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298139.7:c.2986G>A MANE Select | ENSP00000298139.5:p.Asp996Asn | |
| ENST00000650667.1:c.*2600G>A | ENSP00000498593.1:n.*2600G>A | |
| ENST00000298139.5:c.2986G>A | ENSP00000298139.5:p.Asp996Asn | |
| ENST00000521620.5:n.1619G>A | ||
| NM_000553.4:c.2986G>A , LRG_524t1:c.2986G>A | NP_000544.2:p.Asp996Asn | |
| XM_011544639.1:c.2905G>A | XP_011542941.1:p.Asp969Asn | |
| XM_011544640.1:c.1387G>A | XP_011542942.1:p.Asp463Asn | |
| XR_949470.1:n.3259G>A | ||
| XR_949471.1:n.3259G>A | ||
| XR_949472.1:n.3259G>A | ||
| NM_000553.5:c.2986G>A | NP_000544.2:p.Asp996Asn | |
| XM_011544639.3:c.2905G>A | XP_011542941.1:p.Asp969Asn | |
| XM_024447265.1:c.2776G>A | XP_024303033.1:p.Asp926Asn | |
| XR_949470.3:n.3287G>A | ||
| XR_949471.3:n.3287G>A | ||
| XR_949472.3:n.3287G>A | ||
| NM_000553.6:c.2986G>A MANE Select | NP_000544.2:p.Asp996Asn |