Linked Data
ClinVar Variation Id:
2961427
ClinVar RCV Id:
RCV003820138
dbSNP Id:
rs2062997981
MyVariant Identifiers:
chr22:g.29876542G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29480553G>A , CM000684.2:g.29480553G>A | GRCh38 |
| NC_000022.10:g.29876542G>A , CM000684.1:g.29876542G>A | GRCh37 |
| NC_000022.9:g.28206542G>A | NCBI36 |
| NG_008404.1:g.5362G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310624.7:c.291G>A MANE Select | ENSP00000311997.6:p.Glu97= | |
| ENST00000310624.6:c.291G>A | ENSP00000311997.6:p.Glu97= | |
| NM_021076.3:c.291G>A | NP_066554.2:p.Glu97= | |
| XM_011530200.1:c.291G>A | XP_011528502.1:p.Glu97= | |
| XM_011530200.2:c.291G>A | XP_011528502.1:p.Glu97= | |
| NM_021076.4:c.291G>A MANE Select | NP_066554.2:p.Glu97= |