Linked Data
ClinVar Variation Id:
1534332
ClinVar RCV Id:
RCV002076691
dbSNP Id:
rs773193800
ExAC:
17:48276697 G / A
gnomAD v2:
17-48276697-G-A
gnomAD v3:
17-50199336-G-A
gnomAD v4:
17-50199336-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50199336G>A , CM000679.2:g.50199336G>A | GRCh38 |
| NC_000017.10:g.48276697G>A , CM000679.1:g.48276697G>A | GRCh37 |
| NC_000017.9:g.45631696G>A | NCBI36 |
| NG_007400.1:g.7304C>T , LRG_1:g.7304C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.370-9C>T MANE Select | ENSP00000225964.6:n.370-9C>T | |
| ENST00000225964.9:c.370-9C>T | ENSP00000225964.5:n.370-9C>T | |
| ENST00000474644.1:n.591-9C>T | ||
| ENST00000507689.1:c.424-9C>T | ENSP00000460459.1:n.424-9C>T | |
| NM_000088.3:c.370-9C>T , LRG_1t1:c.370-9C>T | NP_000079.2:n.370-9C>T | |
| XM_005257058.3:c.370-9C>T | XP_005257115.2:n.370-9C>T | |
| XM_005257059.3:c.370-9C>T | XP_005257116.2:n.370-9C>T | |
| XM_011524341.1:c.370-9C>T | XP_011522643.1:n.370-9C>T | |
| XM_005257058.4:c.370-9C>T | XP_005257115.2:n.370-9C>T | |
| XM_005257059.4:c.370-9C>T | XP_005257116.2:n.370-9C>T | |
| NM_000088.4:c.370-9C>T MANE Select | NP_000079.2:n.370-9C>T |