Linked Data
ClinVar Variation Id:
9233
ClinVar RCV Id:
RCV000009814
dbSNP Id:
rs17235409
ExAC:
2:219259732 G / A
gnomAD v2:
2-219259732-G-A
gnomAD v3:
2-218395009-G-A
gnomAD v4:
2-218395009-G-A
PubMed:
PMID:16395392
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218395009G>A , CM000664.2:g.218395009G>A | GRCh38 |
| NC_000002.11:g.219259732G>A , CM000664.1:g.219259732G>A | GRCh37 |
| NC_000002.10:g.218967976G>A | NCBI36 |
| NG_012128.1:g.17981G>A | |
| NG_030418.1:g.1672G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233202.11:c.1627G>A MANE Select | ENSP00000233202.6:p.Asp543Asn | |
| ENST00000233202.10:c.1627G>A | ENSP00000233202.6:p.Asp543Asn | |
| ENST00000354352.9:c.*1209G>A | ENSP00000346320.5:n.*1209G>A | |
| ENST00000465984.5:n.2103G>A | ||
| ENST00000468221.5:n.4754G>A | ||
| NM_000578.3:c.1627G>A | NP_000569.3:p.Asp543Asn | |
| XM_005246793.2:c.1426G>A | XP_005246850.1:p.Asp476Asn | |
| XM_005246794.2:c.1273G>A | XP_005246851.1:p.Asp425Asn | |
| XM_006712709.2:c.1273G>A | XP_006712772.1:p.Asp425Asn | |
| XM_006712710.2:c.1273G>A | XP_006712773.1:p.Asp425Asn | |
| XM_006712711.2:c.1180G>A | XP_006712774.1:p.Asp394Asn | |
| XM_011511684.1:c.1300G>A | XP_011509986.1:p.Asp434Asn | |
| XM_011511685.1:c.1300G>A | XP_011509987.1:p.Asp434Asn | |
| XM_005246793.4:c.1426G>A | XP_005246850.1:p.Asp476Asn | |
| XM_005246794.4:c.1273G>A | XP_005246851.1:p.Asp425Asn | |
| XM_006712709.4:c.1273G>A | XP_006712772.1:p.Asp425Asn | |
| XM_006712710.4:c.1273G>A | XP_006712773.1:p.Asp425Asn | |
| XM_006712711.4:c.1180G>A | XP_006712774.1:p.Asp394Asn | |
| XM_011511684.3:c.1300G>A | XP_011509986.1:p.Asp434Asn | |
| XM_011511685.3:c.1300G>A | XP_011509987.1:p.Asp434Asn | |
| XM_017004765.2:c.1504G>A | XP_016860254.1:p.Asp502Asn | |
| XM_017004766.2:c.1426G>A | XP_016860255.1:p.Asp476Asn | |
| XM_017004767.2:c.1258G>A | XP_016860256.1:p.Asp420Asn | |
| XR_427107.3:n.2642G>A | ||
| XR_427108.4:n.2953G>A | ||
| NM_000578.4:c.1627G>A MANE Select | NP_000569.3:p.Asp543Asn |