Linked Data
ClinVar Variation Id:
7340
ClinVar RCV Id:
RCV000007765
dbSNP Id:
rs121434451
gnomAD v2:
8-21976740-C-T
gnomAD v3:
8-22119227-C-T
gnomAD v4:
8-22119227-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22119227C>T , CM000670.2:g.22119227C>T | GRCh38 |
| NC_000008.10:g.21976740C>T , CM000670.1:g.21976740C>T | GRCh37 |
| NC_000008.9:g.22032685C>T | NCBI36 |
| NG_008166.1:g.16291G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381418.9:c.3034G>A MANE Select | ENSP00000370826.4:p.Asp1012Asn | |
| ENST00000680789.1:c.3034G>A | ENSP00000505181.1:p.Asp1012Asn | |
| ENST00000312841.9:c.3034G>A | ENSP00000326765.8:p.Asp1012Asn | |
| ENST00000381418.8:c.3034G>A | ENSP00000370826.4:p.Asp1012Asn | |
| ENST00000522039.1:n.166G>A | ||
| NM_005144.4:c.3034G>A | NP_005135.2:p.Asp1012Asn | |
| NM_018411.4:c.3034G>A | NP_060881.2:p.Asp1012Asn | |
| XM_005273569.1:c.3037G>A | XP_005273626.1:p.Asp1013Asn | |
| XM_006716367.1:c.3037G>A | XP_006716430.1:p.Asp1013Asn | |
| XM_005273569.2:c.3037G>A | XP_005273626.1:p.Asp1013Asn | |
| XM_006716367.2:c.3037G>A | XP_006716430.1:p.Asp1013Asn | |
| NM_005144.5:c.3034G>A MANE Select | NP_005135.2:p.Asp1012Asn |