Linked Data
ClinVar Variation Id:
2586620
ClinVar RCV Id:
RCV003360644
dbSNP Id:
rs1656699232
gnomAD v4:
1-218346848-G-A
MyVariant Identifiers:
chr1:g.218520190G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218346848G>A , CM000663.2:g.218346848G>A | GRCh38 |
| NC_000001.10:g.218520190G>A , CM000663.1:g.218520190G>A | GRCh37 |
| NC_000001.9:g.216586813G>A | NCBI36 |
| NG_027721.1:g.6515G>A | |
| NG_027721.2:g.6515G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.147G>A MANE Select | ENSP00000355897.4:p.Lys49= | |
| ENST00000366929.4:c.147G>A | ENSP00000355896.4:p.Lys49= | |
| ENST00000366930.8:c.147G>A | ENSP00000355897.4:p.Lys49= | |
| NM_001135599.2:c.147G>A | NP_001129071.1:p.Lys49= | |
| NM_003238.3:c.147G>A | NP_003229.1:p.Lys49= | |
| NM_001135599.3:c.147G>A | NP_001129071.1:p.Lys49= | |
| NM_003238.4:c.147G>A | NP_003229.1:p.Lys49= | |
| NR_138148.1:n.1565G>A | ||
| NR_138149.1:n.1565G>A | ||
| NM_003238.5:c.147G>A | NP_003229.1:p.Lys49= | |
| NM_003238.6:c.147G>A MANE Select | NP_003229.1:p.Lys49= | |
| NM_001135599.4:c.147G>A | NP_001129071.1:p.Lys49= | |
| NR_138148.2:n.1513G>A | ||
| NR_138149.2:n.1513G>A |