Linked Data
ClinVar Variation Id:
2629880
ClinVar RCV Id:
RCV004550591
dbSNP Id:
rs1000721897
gnomAD v3:
17-50188125-C-T
gnomAD v4:
17-50188125-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188125C>T , CM000679.2:g.50188125C>T | GRCh38 |
| NC_000017.10:g.48265486C>T , CM000679.1:g.48265486C>T | GRCh37 |
| NC_000017.9:g.45620485C>T | NCBI36 |
| NG_007400.1:g.18515G>A , LRG_1:g.18515G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3232G>A MANE Select | ENSP00000225964.6:p.Val1078Ile | |
| ENST00000225964.9:c.3232G>A | ENSP00000225964.5:p.Val1078Ile | |
| ENST00000486572.1:n.430G>A | ||
| ENST00000511732.1:n.556G>A | ||
| NM_000088.3:c.3232G>A , LRG_1t1:c.3232G>A | NP_000079.2:p.Val1078Ile | |
| XM_005257058.3:c.2962G>A | XP_005257115.2:p.Val988Ile | |
| XM_005257059.3:c.2314G>A | XP_005257116.2:p.Val772Ile | |
| XM_011524341.1:c.3034G>A | XP_011522643.1:p.Val1012Ile | |
| XM_005257058.4:c.2962G>A | XP_005257115.2:p.Val988Ile | |
| XM_005257059.4:c.2314G>A | XP_005257116.2:p.Val772Ile | |
| NM_000088.4:c.3232G>A MANE Select | NP_000079.2:p.Val1078Ile |