Linked Data
ClinVar Variation Id:
2058168
ClinVar RCV Id:
RCV002942192
dbSNP Id:
rs370895601
gnomAD v2:
17-48265484-G-A
gnomAD v3:
17-50188123-G-A
gnomAD v4:
17-50188123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188123G>A , CM000679.2:g.50188123G>A | GRCh38 |
| NC_000017.10:g.48265484G>A , CM000679.1:g.48265484G>A | GRCh37 |
| NC_000017.9:g.45620483G>A | NCBI36 |
| NG_007400.1:g.18517C>T , LRG_1:g.18517C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3234C>T MANE Select | ENSP00000225964.6:p.Val1078= | |
| ENST00000225964.9:c.3234C>T | ENSP00000225964.5:p.Val1078= | |
| ENST00000486572.1:n.432C>T | ||
| ENST00000511732.1:n.558C>T | ||
| NM_000088.3:c.3234C>T , LRG_1t1:c.3234C>T | NP_000079.2:p.Val1078= | |
| XM_005257058.3:c.2964C>T | XP_005257115.2:p.Val988= | |
| XM_005257059.3:c.2316C>T | XP_005257116.2:p.Val772= | |
| XM_011524341.1:c.3036C>T | XP_011522643.1:p.Val1012= | |
| XM_005257058.4:c.2964C>T | XP_005257115.2:p.Val988= | |
| XM_005257059.4:c.2316C>T | XP_005257116.2:p.Val772= | |
| NM_000088.4:c.3234C>T MANE Select | NP_000079.2:p.Val1078= |