Linked Data
ClinVar Variation Id:
2064157
ClinVar RCV Id:
RCV002928739
dbSNP Id:
rs1348613862
gnomAD v2:
10-82034769-T-C
gnomAD v4:
10-80275013-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275013T>C , CM000672.2:g.80275013T>C | GRCh38 |
| NC_000010.10:g.82034769T>C , CM000672.1:g.82034769T>C | GRCh37 |
| NC_000010.9:g.82024749T>C | NCBI36 |
| NG_008083.1:g.19666A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.951+4A>G MANE Select | ENSP00000361287.3:n.951+4A>G | |
| ENST00000372213.7:c.951+4A>G | ENSP00000361287.3:n.951+4A>G | |
| ENST00000480845.1:n.183+4A>G | ||
| ENST00000485270.5:n.463+4A>G | ||
| NM_000429.2:c.951+4A>G | NP_000420.1:n.951+4A>G | |
| XM_005269842.3:c.951+4A>G | XP_005269899.1:n.951+4A>G | |
| XM_005269843.3:c.828+4A>G | XP_005269900.1:n.828+4A>G | |
| NM_000429.3:c.951+4A>G MANE Select | NP_000420.1:n.951+4A>G |