Linked Data
ClinVar Variation Id:
185843
ClinVar RCV Id:
RCV000165340
dbSNP Id:
rs786202498
gnomAD v4:
5-132604885-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132604885T>G , CM000667.2:g.132604885T>G | GRCh38 |
| NC_000005.9:g.131940577T>G , CM000667.1:g.131940577T>G | GRCh37 |
| NC_000005.8:g.131968476T>G | NCBI36 |
| NG_021151.1:g.52962T>G | |
| NG_021151.2:g.52909T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2604T>G MANE Select | ENSP00000368100.4:p.Asn868Lys | |
| ENST00000638452.2:c.2307T>G | ENSP00000492349.2:p.Asn769Lys | |
| ENST00000638504.1:n.2212T>G | ||
| ENST00000638568.2:c.2307T>G | ENSP00000491158.2:p.Asn769Lys | |
| ENST00000639899.1:n.3123T>G | ||
| ENST00000640655.2:c.2307T>G | ENSP00000491596.2:p.Asn769Lys | |
| ENST00000651160.1:c.*748T>G | ENSP00000498829.1:n.*748T>G | |
| ENST00000651723.1:c.*2687T>G | ENSP00000498237.1:n.*2687T>G | |
| ENST00000652016.1:c.*821T>G | ENSP00000498267.1:n.*821T>G | |
| ENST00000652485.1:c.2637T>G | ENSP00000498973.1:p.Asn879Lys | |
| ENST00000378823.7:c.2604T>G | ENSP00000368100.4:p.Asn868Lys | |
| ENST00000423956.5:c.*790T>G | ENSP00000390971.1:n.*790T>G | |
| ENST00000533482.5:c.*2230T>G | ENSP00000431225.1:n.*2230T>G | |
| NM_005732.3:c.2604T>G | NP_005723.2:p.Asn868Lys | |
| NM_005732.4:c.2604T>G MANE Select | NP_005723.2:p.Asn868Lys |