Linked Data
ClinVar Variation Id:
322100
ClinVar RCV Id:
RCV000260172
dbSNP Id:
rs548842769
gnomAD v2:
17-18012031-C-T
gnomAD v3:
17-18108717-C-T
gnomAD v4:
17-18108717-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18108717C>T , CM000679.2:g.18108717C>T | GRCh38 |
| NC_000017.10:g.18012031C>T , CM000679.1:g.18012031C>T | GRCh37 |
| NC_000017.9:g.17952756C>T | NCBI36 |
| NG_011634.1:g.5012C>T | |
| NG_011634.2:g.5012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205890.9:c.-327C>T | ENSP00000205890.5:n.-327C>T | |
| ENST00000615845.4:c.-327C>T | ENSP00000481642.1:n.-327C>T | |
| NM_016239.3:c.-327C>T | NP_057323.3:n.-327C>T | |
| XM_011524124.1:c.201-82G>A | XP_011522426.1:n.201-82G>A | |
| XM_011524125.1:c.150-82G>A | XP_011522427.1:n.150-82G>A | |
| XR_934290.1:n.558-82G>A | ||
| XR_934291.1:n.676-82G>A | ||
| XM_024451066.1:c.150-82G>A | XP_024306834.1:n.150-82G>A | |
| XR_001752802.2:n.3068G>A | ||
| XR_001752804.1:n.2936G>A | ||
| XR_001752806.2:n.3068G>A | ||
| XR_001752807.1:n.3068G>A | ||
| XR_001752808.1:n.1659G>A | ||
| XR_002958147.1:n.756-82G>A | ||
| XR_934290.2:n.2148-82G>A | ||
| XR_934292.2:n.2675G>A | ||
| NR_164159.1:n.448-82G>A |