Linked Data
ClinVar Variation Id:
507366
ClinVar RCV Id:
RCV000614795
dbSNP Id:
rs1554772552
gnomAD v2:
9-137534017-G-A
gnomAD v3:
9-134642171-G-A
gnomAD v4:
9-134642171-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134642171G>A , CM000671.2:g.134642171G>A | GRCh38 |
| NC_000009.11:g.137534017G>A , CM000671.1:g.137534017G>A | GRCh37 |
| NC_000009.10:g.136673838G>A | NCBI36 |
| NG_008030.1:g.5366G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.-17G>A | ENSP00000360885.4:n.-17G>A | |
| ENST00000371817.8:c.-17G>A MANE Select | ENSP00000360882.3:n.-17G>A | |
| ENST00000371817.7:c.-17G>A | ENSP00000360882.3:n.-17G>A | |
| ENST00000618395.4:c.-17G>A | ENSP00000481360.1:n.-17G>A | |
| NM_000093.4:c.-17G>A | NP_000084.3:n.-17G>A | |
| NM_001278074.1:c.-17G>A | NP_001265003.1:n.-17G>A | |
| XR_929712.1:n.386G>A | ||
| XR_929713.1:n.386G>A | ||
| XM_017014266.2:c.-17G>A | XP_016869755.1:n.-17G>A | |
| XR_001746183.1:n.382G>A | ||
| NM_000093.5:c.-17G>A MANE Select | NP_000084.3:n.-17G>A |