Linked Data
ClinVar Variation Id:
2886210
ClinVar RCV Id:
RCV003719820
dbSNP Id:
rs147279890
ExAC:
20:44533584 G / A
gnomAD v2:
20-44533584-G-A
gnomAD v3:
20-45904945-G-A
gnomAD v4:
20-45904945-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45904945G>A , CM000682.2:g.45904945G>A | GRCh38 |
| NC_000020.10:g.44533584G>A , CM000682.1:g.44533584G>A | GRCh37 |
| NC_000020.9:g.43966991G>A | NCBI36 |
| NG_012115.1:g.12203C>T | |
| NG_012115.2:g.12203C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372431.8:c.879C>T MANE Select | ENSP00000361508.3:p.Asp293= | |
| ENST00000354050.8:c.723C>T | ENSP00000335290.4:p.Asp241= | |
| ENST00000372420.5:c.615C>T | ENSP00000361497.1:p.Asp205= | |
| ENST00000372431.7:c.879C>T | ENSP00000361508.3:p.Asp293= | |
| ENST00000420868.2:c.594C>T | ENSP00000411671.2:p.Asp198= | |
| ENST00000477313.5:c.879C>T | ENSP00000417138.1:p.Asp293= | |
| NM_001242920.1:c.594C>T | NP_001229849.1:p.Asp198= | |
| NM_001242921.1:c.615C>T | NP_001229850.1:p.Asp205= | |
| NM_006227.3:c.879C>T | NP_006218.1:p.Asp293= | |
| NM_182676.2:c.723C>T | NP_872617.1:p.Asp241= | |
| NM_006227.4:c.879C>T MANE Select | NP_006218.1:p.Asp293= | |
| NM_001242920.2:c.594C>T | NP_001229849.1:p.Asp198= | |
| NM_182676.3:c.723C>T | NP_872617.1:p.Asp241= |