Linked Data
ClinVar Variation Id:
650472
ClinVar RCV Id:
RCV000805632
dbSNP Id:
rs1291566237
gnomAD v3:
1-172665673-T-A
gnomAD v4:
1-172665673-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665673T>A , CM000663.2:g.172665673T>A | GRCh38 |
| NC_000001.10:g.172634813T>A , CM000663.1:g.172634813T>A | GRCh37 |
| NC_000001.9:g.170901436T>A | NCBI36 |
| NG_007269.1:g.11629T>A , LRG_58:g.11629T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.503T>A MANE Select | ENSP00000356694.2:p.Ile168Asn | |
| ENST00000340030.4:c.*73T>A | ENSP00000344739.3:n.*73T>A | |
| ENST00000367721.2:c.503T>A | ENSP00000356694.2:p.Ile168Asn | |
| NM_000639.2:c.503T>A | NP_000630.1:p.Ile168Asn | |
| NM_001302746.1:c.*73T>A | NP_001289675.1:n.*73T>A | |
| NM_000639.3:c.503T>A MANE Select | NP_000630.1:p.Ile168Asn | |
| NM_001302746.2:c.*73T>A | NP_001289675.1:n.*73T>A |