Linked Data
ClinVar Variation Id:
793164
dbSNP Id:
rs1266571823
gnomAD v2:
6-64498008-A-G
gnomAD v3:
6-63788115-A-G
gnomAD v4:
6-63788115-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63788115A>G , CM000668.2:g.63788115A>G | GRCh38 |
| NC_000006.11:g.64498008A>G , CM000668.1:g.64498008A>G | GRCh37 |
| NC_000006.10:g.64555967A>G | NCBI36 |
| NG_023443.1:g.1924111T>C | |
| NG_023443.2:g.1924111T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.7713T>C MANE Select | ENSP00000424243.1:p.Asn2571= | |
| ENST00000370616.6:c.7713T>C | ENSP00000359650.2:p.Asn2571= | |
| ENST00000370618.7:c.7713T>C | ENSP00000359652.4:p.Asn2571= | |
| ENST00000370621.7:c.7713T>C | ENSP00000359655.3:p.Asn2571= | |
| ENST00000398580.3:c.1027T>C | ||
| ENST00000486069.1:n.353T>C | ||
| ENST00000503581.5:c.7713T>C | ENSP00000424243.1:p.Asn2571= | |
| NM_001142800.1:c.7713T>C | NP_001136272.1:p.Asn2571= | |
| NM_001292009.1:c.7713T>C | NP_001278938.1:p.Asn2571= | |
| NM_001142800.2:c.7713T>C MANE Select | NP_001136272.1:p.Asn2571= | |
| NM_001292009.2:c.7713T>C | NP_001278938.1:p.Asn2571= |