Linked Data
ClinVar Variation Id:
410995
dbSNP Id:
rs148883126
ExAC:
8:101251617 A / T
gnomAD v2:
8-101251617-A-T
gnomAD v3:
8-100239389-A-T
gnomAD v4:
8-100239389-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.100239389A>T , CM000670.2:g.100239389A>T | GRCh38 |
| NC_000008.10:g.101251617A>T , CM000670.1:g.101251617A>T | GRCh37 |
| NC_000008.9:g.101320793A>T | NCBI36 |
| NG_033834.1:g.86355A>T | |
| NG_033834.2:g.86355A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388798.7:c.2265A>T MANE Select | ENSP00000373450.3:p.Lys755Asn | |
| ENST00000251809.4:c.2265A>T | ENSP00000251809.3:p.Lys755Asn | |
| ENST00000388798.6:c.2265A>T | ENSP00000373450.2:p.Lys755Asn | |
| ENST00000519424.1:n.517A>T | ||
| NM_003114.4:c.2265A>T | NP_003105.2:p.Lys755Asn | |
| NM_172218.2:c.2265A>T | NP_757367.1:p.Lys755Asn | |
| XM_011517240.1:c.2112A>T | XP_011515542.1:p.Lys704Asn | |
| XM_011517241.1:c.2116-1014A>T | XP_011515543.1:n.2116-1014A>T | |
| XM_011517242.1:c.2265A>T | XP_011515544.1:p.Lys755Asn | |
| XM_011517243.1:c.2265A>T | XP_011515545.1:p.Lys755Asn | |
| XR_928449.1:n.89-1955T>A | ||
| XM_011517240.2:c.2112A>T | XP_011515542.1:p.Lys704Asn | |
| XM_011517241.2:c.2116-1014A>T | XP_011515543.1:n.2116-1014A>T | |
| XM_011517242.2:c.2265A>T | XP_011515544.1:p.Lys755Asn | |
| XM_011517243.2:c.2265A>T | XP_011515545.1:p.Lys755Asn | |
| XM_017013754.1:c.2370A>T | XP_016869243.1:p.Lys790Asn | |
| XM_017013755.1:c.1929A>T | XP_016869244.1:p.Lys643Asn | |
| XR_001745580.1:n.2224A>T | ||
| XR_001745581.1:n.2057A>T | ||
| XR_001745582.1:n.2251A>T | ||
| XR_928449.3:n.87-1955T>A | ||
| NM_001374321.1:c.2265A>T | NP_001361250.1:p.Lys755Asn | |
| NM_003114.5:c.2265A>T MANE Select | NP_003105.2:p.Lys755Asn | |
| NM_172218.3:c.2265A>T | NP_757367.1:p.Lys755Asn |