Linked Data
ClinVar Variation Id:
1505019
ClinVar RCV Id:
RCV002020282
dbSNP Id:
rs377379528
gnomAD v2:
17-48263213-C-T
gnomAD v3:
17-50185852-C-T
gnomAD v4:
17-50185852-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185852C>T , CM000679.2:g.50185852C>T | GRCh38 |
| NC_000017.10:g.48263213C>T , CM000679.1:g.48263213C>T | GRCh37 |
| NC_000017.9:g.45618212C>T | NCBI36 |
| NG_007400.1:g.20788G>A , LRG_1:g.20788G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4174G>A MANE Select | ENSP00000225964.6:p.Gly1392Ser | |
| ENST00000225964.9:c.4174G>A | ENSP00000225964.5:p.Gly1392Ser | |
| ENST00000510710.3:n.1139G>A | ||
| NM_000088.3:c.4174G>A , LRG_1t1:c.4174G>A | NP_000079.2:p.Gly1392Ser | |
| XM_005257058.3:c.3904G>A | XP_005257115.2:p.Gly1302Ser | |
| XM_005257059.3:c.3256G>A | XP_005257116.2:p.Gly1086Ser | |
| XM_011524341.1:c.3976G>A | XP_011522643.1:p.Gly1326Ser | |
| XM_005257058.4:c.3904G>A | XP_005257115.2:p.Gly1302Ser | |
| XM_005257059.4:c.3256G>A | XP_005257116.2:p.Gly1086Ser | |
| NM_000088.4:c.4174G>A MANE Select | NP_000079.2:p.Gly1392Ser |