Linked Data
ClinVar Variation Id:
568330
ClinVar RCV Id:
RCV001488016
dbSNP Id:
rs1565992052
gnomAD v4:
12-115982425-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115982425C>T , CM000674.2:g.115982425C>T | GRCh38 |
| NC_000012.11:g.116420230C>T , CM000674.1:g.116420230C>T | GRCh37 |
| NC_000012.10:g.114904613C>T | NCBI36 |
| NG_023366.1:g.299762G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5134G>A MANE Select | ENSP00000281928.3:p.Asp1712Asn | |
| ENST00000549786.2:c.4562G>A | ||
| ENST00000648379.1:n.3502G>A | ||
| ENST00000648737.1:n.4898G>A | ||
| ENST00000648825.1:n.1874G>A | ||
| ENST00000648916.1:n.3145G>A | ||
| ENST00000649146.1:n.2377G>A | ||
| ENST00000649607.1:c.3318G>A | ||
| ENST00000649775.1:c.1623G>A | ||
| ENST00000650226.1:c.5134G>A | ENSP00000496981.1:p.Asp1712Asn | |
| ENST00000281928.7:c.5134G>A | ENSP00000281928.3:p.Asp1712Asn | |
| ENST00000549786.1:c.498G>A | ||
| ENST00000552340.1:c.166G>A | ENSP00000449876.1:p.Asp56Asn | |
| NM_015335.4:c.5134G>A | NP_056150.1:p.Asp1712Asn | |
| XM_011538080.1:c.5134G>A | XP_011536382.1:p.Asp1712Asn | |
| XM_011538081.1:c.5131G>A | XP_011536383.1:p.Asp1711Asn | |
| XM_011538082.1:c.5104G>A | XP_011536384.1:p.Asp1702Asn | |
| XM_011538080.2:c.5134G>A | XP_011536382.1:p.Asp1712Asn | |
| XM_011538081.2:c.5131G>A | XP_011536383.1:p.Asp1711Asn | |
| XM_011538082.2:c.5104G>A | XP_011536384.1:p.Asp1702Asn | |
| XM_017019090.1:c.5131G>A | XP_016874579.1:p.Asp1711Asn | |
| NM_015335.5:c.5134G>A MANE Select | NP_056150.1:p.Asp1712Asn |