Linked Data
ClinVar Variation Id:
1040541
ClinVar RCV Id:
RCV001344205
dbSNP Id:
rs2084998620
gnomAD v4:
19-1495503-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1495503G>A , CM000681.2:g.1495503G>A | GRCh38 |
| NC_000019.9:g.1495502G>A , CM000681.1:g.1495502G>A | GRCh37 |
| NC_000019.8:g.1446502G>A | NCBI36 |
| NG_055254.1:g.9499G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233596.8:c.244G>A MANE Select | ENSP00000233596.2:p.Asp82Asn | |
| ENST00000395479.10:c.244G>A MANE Plus Clinical | ENSP00000378861.5:p.Asp82Asn | |
| ENST00000233596.7:c.244G>A | ENSP00000233596.2:p.Asp82Asn | |
| ENST00000395479.8:c.60G>A | ||
| ENST00000395484.4:c.28G>A | ENSP00000378865.4:p.Asp10Asn | |
| ENST00000591735.2:n.348G>A | ||
| NM_138393.1:c.244G>A | NP_612402.1:p.Asp82Asn | |
| NM_001329556.2:c.244G>A | NP_001316485.1:p.Asp82Asn | |
| NM_138393.3:c.244G>A | NP_612402.1:p.Asp82Asn | |
| NM_138393.4:c.244G>A MANE Select | NP_612402.1:p.Asp82Asn | |
| NM_001329556.3:c.244G>A MANE Plus Clinical | NP_001316485.1:p.Asp82Asn |