Linked Data
ClinVar Variation Id:
1110716
ClinVar RCV Id:
RCV001437028
dbSNP Id:
rs2118355518
gnomAD v4:
9-101427599-A-G
MyVariant Identifiers:
chr9:g.104189881A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101427599A>G , CM000671.2:g.101427599A>G | GRCh38 |
| NC_000009.11:g.104189881A>G , CM000671.1:g.104189881A>G | GRCh37 |
| NC_000009.10:g.103229702A>G | NCBI36 |
| NG_012387.1:g.13182T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.423T>C MANE Select | ENSP00000497767.1:p.Asp141= | |
| ENST00000648064.1:c.423T>C | ENSP00000497990.1:p.Asp141= | |
| ENST00000648758.1:c.423T>C | ENSP00000497731.1:p.Asp141= | |
| ENST00000649902.1:c.423T>C | ENSP00000497216.1:p.Asp141= | |
| ENST00000374855.8:c.423T>C | ENSP00000363988.4:p.Asp141= | |
| ENST00000468981.3:n.68-961T>C | ||
| ENST00000616752.1:c.423T>C | ENSP00000481363.1:p.Asp141= | |
| NM_000035.3:c.423T>C | NP_000026.2:p.Asp141= | |
| NM_000035.4:c.423T>C MANE Select | NP_000026.2:p.Asp141= |