Linked Data
ClinVar Variation Id:
281322
ClinVar RCV Id:
RCV000377775
RCV000631511
RCV001124862
RCV001124863
RCV001711850
RCV002278262
RCV002411144
RCV004547656
RCV001124861
dbSNP Id:
rs375914028
ExAC:
17:48273335 A / T
gnomAD v2:
17-48273335-A-T
gnomAD v3:
17-50195974-A-T
gnomAD v4:
17-50195974-A-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50195974A>T , CM000679.2:g.50195974A>T | GRCh38 |
| NC_000017.10:g.48273335A>T , CM000679.1:g.48273335A>T | GRCh37 |
| NC_000017.9:g.45628334A>T | NCBI36 |
| NG_007400.1:g.10666T>A , LRG_1:g.10666T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1005T>A MANE Select | ENSP00000225964.6:p.Gly335= | |
| ENST00000225964.9:c.1005T>A | ENSP00000225964.5:p.Gly335= | |
| NM_000088.3:c.1005T>A , LRG_1t1:c.1005T>A | NP_000079.2:p.Gly335= | |
| XM_005257058.3:c.1005T>A | XP_005257115.2:p.Gly335= | |
| XM_005257059.3:c.957+340T>A | XP_005257116.2:n.957+340T>A | |
| XM_011524341.1:c.957+340T>A | XP_011522643.1:n.957+340T>A | |
| XM_005257058.4:c.1005T>A | XP_005257115.2:p.Gly335= | |
| XM_005257059.4:c.957+340T>A | XP_005257116.2:n.957+340T>A | |
| NM_000088.4:c.1005T>A MANE Select | NP_000079.2:p.Gly335= |