Linked Data
ClinVar Variation Id:
322101
ClinVar RCV Id:
RCV000299033
dbSNP Id:
rs185186294
gnomAD v2:
17-18012131-G-A
gnomAD v3:
17-18108817-G-A
gnomAD v4:
17-18108817-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18108817G>A , CM000679.2:g.18108817G>A | GRCh38 |
| NC_000017.10:g.18012131G>A , CM000679.1:g.18012131G>A | GRCh37 |
| NC_000017.9:g.17952856G>A | NCBI36 |
| NG_011634.1:g.5112G>A | |
| NG_011634.2:g.5112G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.-227G>A MANE Select | ENSP00000495481.1:n.-227G>A | |
| ENST00000205890.9:c.-227G>A | ENSP00000205890.5:n.-227G>A | |
| ENST00000615845.4:c.-227G>A | ENSP00000481642.1:n.-227G>A | |
| NM_016239.3:c.-227G>A | NP_057323.3:n.-227G>A | |
| XM_011524124.1:c.201-182C>T | XP_011522426.1:n.201-182C>T | |
| XM_011524125.1:c.150-182C>T | XP_011522427.1:n.150-182C>T | |
| XR_934290.1:n.558-182C>T | ||
| XR_934291.1:n.676-182C>T | ||
| XM_024451066.1:c.150-182C>T | XP_024306834.1:n.150-182C>T | |
| XR_001752802.2:n.2968C>T | ||
| XR_001752804.1:n.2836C>T | ||
| XR_001752806.2:n.2968C>T | ||
| XR_001752807.1:n.2968C>T | ||
| XR_001752808.1:n.1559C>T | ||
| XR_002958147.1:n.756-182C>T | ||
| XR_934290.2:n.2148-182C>T | ||
| XR_934292.2:n.2575C>T | ||
| NM_016239.4:c.-227G>A MANE Select | NP_057323.3:n.-227G>A | |
| NR_164159.1:n.448-182C>T |