Linked Data
ClinVar Variation Id:
141360
ClinVar RCV Id:
RCV000129850
dbSNP Id:
rs587781686
gnomAD v2:
5-131945044-A-C
gnomAD v3:
5-132609352-A-C
gnomAD v4:
5-132609352-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609352A>C , CM000667.2:g.132609352A>C | GRCh38 |
| NC_000005.9:g.131945044A>C , CM000667.1:g.131945044A>C | GRCh37 |
| NC_000005.8:g.131972943A>C | NCBI36 |
| NG_021151.1:g.57429A>C | |
| NG_021151.2:g.57376A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.2992A>C MANE Select | ENSP00000368100.4:p.Asn998His | |
| ENST00000638452.2:c.2695A>C | ENSP00000492349.2:p.Asn899His | |
| ENST00000638504.1:n.2600A>C | ||
| ENST00000638568.2:c.2695A>C | ENSP00000491158.2:p.Asn899His | |
| ENST00000639899.1:n.3511A>C | ||
| ENST00000640655.2:c.2695A>C | ENSP00000491596.2:p.Asn899His | |
| ENST00000651723.1:c.*3075A>C | ENSP00000498237.1:n.*3075A>C | |
| ENST00000378823.7:c.2992A>C | ENSP00000368100.4:p.Asn998His | |
| ENST00000533482.5:c.*2618A>C | ENSP00000431225.1:n.*2618A>C | |
| NM_005732.3:c.2992A>C | NP_005723.2:p.Asn998His | |
| NM_005732.4:c.2992A>C MANE Select | NP_005723.2:p.Asn998His |