Linked Data
ClinVar Variation Id:
4743
ClinVar RCV Id:
RCV000005009
dbSNP Id:
rs1667394
gnomAD v2:
15-28530182-C-T
gnomAD v3:
15-28285036-C-T
gnomAD v4:
15-28285036-C-T
PubMed:
PMID:17952075
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28285036C>T , CM000677.2:g.28285036C>T | GRCh38 |
| NC_000015.9:g.28530182C>T , CM000677.1:g.28530182C>T | GRCh37 |
| NC_000015.8:g.26203777C>T | NCBI36 |
| NG_016355.1:g.42114G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261609.13:c.323-4749G>A MANE Select | ENSP00000261609.8:n.323-4749G>A | |
| ENST00000261609.11:c.323-4749G>A | ENSP00000261609.7:n.323-4749G>A | |
| ENST00000564383.1:n.218-4749G>A | ||
| ENST00000564734.5:c.*193-4749G>A | ENSP00000456237.1:n.*193-4749G>A | |
| NM_004667.5:c.323-4749G>A | NP_004658.3:n.323-4749G>A | |
| XM_005268276.3:c.209-4749G>A | XP_005268333.1:n.209-4749G>A | |
| XM_005268277.3:c.209-4749G>A | XP_005268334.1:n.209-4749G>A | |
| XM_006720726.2:c.323-4749G>A | XP_006720789.1:n.323-4749G>A | |
| XM_006720727.2:c.323-4749G>A | XP_006720790.1:n.323-4749G>A | |
| XM_011522133.1:c.322+7852G>A | XP_011520435.1:n.322+7852G>A | |
| XM_011522135.1:c.323-4749G>A | XP_011520437.1:n.323-4749G>A | |
| XM_011522136.1:c.323-4749G>A | XP_011520438.1:n.323-4749G>A | |
| XM_011522137.1:c.323-4749G>A | XP_011520439.1:n.323-4749G>A | |
| XR_931930.1:n.452-4749G>A | ||
| XR_931931.1:n.452-4749G>A | ||
| XM_005268276.5:c.209-4749G>A | XP_005268333.1:n.209-4749G>A | |
| XM_006720726.3:c.323-4749G>A | XP_006720789.1:n.323-4749G>A | |
| XM_006720727.3:c.323-4749G>A | XP_006720790.1:n.323-4749G>A | |
| XM_017022695.1:c.209-4749G>A | XP_016878184.1:n.209-4749G>A | |
| XM_017022696.1:c.209-4749G>A | XP_016878185.1:n.209-4749G>A | |
| XR_001751410.1:n.453-4749G>A | ||
| XR_931930.2:n.453-4749G>A | ||
| NM_004667.6:c.323-4749G>A MANE Select | NP_004658.3:n.323-4749G>A |