Linked Data
ClinVar Variation Id:
2963707
ClinVar RCV Id:
RCV003825345
dbSNP Id:
rs1672854524
gnomAD v3:
2-71110027-C-A
gnomAD v4:
2-71110027-C-A
MyVariant Identifiers:
chr2:g.71337157C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71110027C>A , CM000664.2:g.71110027C>A | GRCh38 |
| NC_000002.11:g.71337157C>A , CM000664.1:g.71337157C>A | GRCh37 |
| NC_000002.10:g.71190665C>A | NCBI36 |
| NG_008977.1:g.25238G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.474G>T MANE Select | ENSP00000244217.5:p.Val158= | |
| ENST00000244217.5:c.474G>T | ENSP00000244217.5:p.Val158= | |
| ENST00000413592.5:c.180G>T | ENSP00000391140.1:p.Val60= | |
| ENST00000462609.2:n.420G>T | ||
| NM_032601.3:c.474G>T | NP_115990.3:p.Val158= | |
| XM_005264613.2:c.312G>T | XP_005264670.1:p.Val104= | |
| XR_939729.2:n.639G>T | ||
| NM_032601.4:c.474G>T MANE Select | NP_115990.3:p.Val158= |