Linked Data
ClinVar Variation Id:
2960844
ClinVar RCV Id:
RCV003817579
dbSNP Id:
rs144566149
ExAC:
18:55342205 G / A
gnomAD v2:
18-55342205-G-A
gnomAD v3:
18-57674973-G-A
gnomAD v4:
18-57674973-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57674973G>A , CM000680.2:g.57674973G>A | GRCh38 |
| NC_000018.9:g.55342205G>A , CM000680.1:g.55342205G>A | GRCh37 |
| NC_000018.8:g.53493203G>A | NCBI36 |
| NG_007148.2:g.133123C>T | |
| NG_007148.3:g.133850C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642462.1:c.1680C>T | ENSP00000494712.1:p.Asn560= | |
| ENST00000648039.1:c.1680C>T | ENSP00000497863.1:p.Asn560= | |
| ENST00000648467.1:c.1545C>T | ||
| ENST00000648908.2:c.1680C>T MANE Select | ENSP00000497896.1:p.Asn560= | |
| ENST00000283684.8:c.1680C>T | ENSP00000283684.4:p.Asn560= | |
| ENST00000536015.5:c.1680C>T | ENSP00000445359.1:p.Asn560= | |
| NM_005603.4:c.1680C>T | NP_005594.1:p.Asn560= | |
| XM_006722481.2:c.1680C>T | XP_006722544.1:p.Asn560= | |
| XM_011526020.1:c.1680C>T | XP_011524322.1:p.Asn560= | |
| XM_011526021.1:c.1680C>T | XP_011524323.1:p.Asn560= | |
| XM_011526022.1:c.1680C>T | XP_011524324.1:p.Asn560= | |
| XM_011526023.1:c.1566C>T | XP_011524325.1:p.Asn522= | |
| XM_011526024.1:c.960C>T | XP_011524326.1:p.Asn320= | |
| NM_005603.6:c.1680C>T | NP_005594.2:p.Asn560= | |
| XM_006722481.4:c.1680C>T | XP_006722544.1:p.Asn560= | |
| XM_011526023.3:c.1566C>T | XP_011524325.1:p.Asn522= | |
| NM_001374385.1:c.1680C>T MANE Select | NP_001361314.1:p.Asn560= | |
| NM_001374386.1:c.1530C>T | NP_001361315.1:p.Asn510= |