Linked Data
ClinVar Variation Id:
40980
ClinVar RCV Id:
RCV000033872
dbSNP Id:
rs273585646
PubMed:
PMID:22876375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50086543C>A , CM000685.2:g.50086543C>A | GRCh38 |
| NC_000023.10:g.49851200C>A , CM000685.1:g.49851200C>A | GRCh37 |
| NC_000023.9:g.49737940C>A | NCBI36 |
| NG_007159.3:g.168928C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376091.8:c.1230C>A MANE Select | ENSP00000365259.3:p.Asn410Lys | |
| ENST00000642383.1:c.480C>A | ENSP00000496353.1:p.Asn160Lys | |
| ENST00000642885.1:c.1020C>A | ENSP00000496632.1:p.Asn340Lys | |
| ENST00000643129.1:c.1517C>A | ||
| ENST00000646398.1:c.*405C>A | ENSP00000495122.1:n.*405C>A | |
| ENST00000307367.2:c.1020C>A | ENSP00000304257.2:p.Asn340Lys | |
| ENST00000376088.7:c.1230C>A | ENSP00000365256.3:p.Asn410Lys | |
| ENST00000376091.7:c.1230C>A | ENSP00000365259.3:p.Asn410Lys | |
| ENST00000376108.7:c.1020C>A | ENSP00000365276.3:p.Asn340Lys | |
| NM_000084.4:c.1020C>A | NP_000075.1:p.Asn340Lys | |
| NM_001127898.3:c.1230C>A | NP_001121370.1:p.Asn410Lys | |
| NM_001127899.3:c.1230C>A | NP_001121371.1:p.Asn410Lys | |
| NM_001282163.1:c.1080C>A | NP_001269092.1:p.Asn360Lys | |
| XM_011543888.1:c.1230C>A | XP_011542190.1:p.Asn410Lys | |
| XM_011543889.1:c.1020C>A | XP_011542191.1:p.Asn340Lys | |
| XM_017029257.1:c.1242C>A | XP_016884746.1:p.Asn414Lys | |
| XM_017029258.1:c.1242C>A | XP_016884747.1:p.Asn414Lys | |
| NM_001127898.4:c.1230C>A MANE Select | NP_001121370.1:p.Asn410Lys | |
| NM_000084.5:c.1020C>A | NP_000075.1:p.Asn340Lys | |
| NM_001127899.4:c.1230C>A | NP_001121371.1:p.Asn410Lys | |
| NM_001282163.2:c.1080C>A | NP_001269092.1:p.Asn360Lys |