Linked Data
ClinVar Variation Id:
1562694
ClinVar RCV Id:
RCV002204986
dbSNP Id:
rs1458021364
gnomAD v2:
9-6558661-T-C
gnomAD v4:
9-6558661-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558661T>C , CM000671.2:g.6558661T>C | GRCh38 |
| NC_000009.11:g.6558661T>C , CM000671.1:g.6558661T>C | GRCh37 |
| NC_000009.10:g.6548661T>C | NCBI36 |
| NG_016397.1:g.92032A>G , LRG_643:g.92032A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1950A>G MANE Select | ENSP00000370737.4:p.Ala650= | |
| ENST00000460457.2:n.110A>G | ||
| ENST00000638233.1:n.385A>G | ||
| ENST00000638661.1:c.150A>G | ENSP00000491369.1:p.Ala50= | |
| ENST00000638694.1:n.137A>G | ||
| ENST00000639318.1:c.150A>G | ENSP00000491932.1:p.Ala50= | |
| ENST00000639364.1:n.1650A>G | ||
| ENST00000639443.1:n.1518A>G | ||
| ENST00000639954.1:n.1658A>G | ||
| ENST00000640208.1:c.150A>G | ENSP00000491895.1:p.Ala50= | |
| ENST00000640505.1:n.189A>G | ||
| ENST00000640592.1:n.1833A>G | ||
| ENST00000321612.6:c.1950A>G | ENSP00000370737.3:p.Ala650= | |
| ENST00000460457.1:n.89A>G | ||
| NM_000170.2:c.1950A>G , LRG_643t1:c.1950A>G | NP_000161.2:p.Ala650= | |
| NM_000170.3:c.1950A>G MANE Select | NP_000161.2:p.Ala650= |