Linked Data
ClinVar Variation Id:
324119
ClinVar RCV Id:
RCV000271447
RCV000333833
RCV000362772
RCV000497393
RCV001514913
RCV002323529
RCV002252095
RCV004549712
dbSNP Id:
rs115997082
ExAC:
17:48276819 G / T
gnomAD v2:
17-48276819-G-T
gnomAD v3:
17-50199458-G-T
gnomAD v4:
17-50199458-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50199458G>T , CM000679.2:g.50199458G>T | GRCh38 |
| NC_000017.10:g.48276819G>T , CM000679.1:g.48276819G>T | GRCh37 |
| NC_000017.9:g.45631818G>T | NCBI36 |
| NG_007400.1:g.7182C>A , LRG_1:g.7182C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.334-5C>A MANE Select | ENSP00000225964.6:n.334-5C>A | |
| ENST00000225964.9:c.334-5C>A | ENSP00000225964.5:n.334-5C>A | |
| ENST00000474644.1:n.550C>A | ||
| ENST00000507689.1:c.388-5C>A | ENSP00000460459.1:n.388-5C>A | |
| NM_000088.3:c.334-5C>A , LRG_1t1:c.334-5C>A | NP_000079.2:n.334-5C>A | |
| XM_005257058.3:c.334-5C>A | XP_005257115.2:n.334-5C>A | |
| XM_005257059.3:c.334-5C>A | XP_005257116.2:n.334-5C>A | |
| XM_011524341.1:c.334-5C>A | XP_011522643.1:n.334-5C>A | |
| XM_005257058.4:c.334-5C>A | XP_005257115.2:n.334-5C>A | |
| XM_005257059.4:c.334-5C>A | XP_005257116.2:n.334-5C>A | |
| NM_000088.4:c.334-5C>A MANE Select | NP_000079.2:n.334-5C>A |