Linked Data
ClinVar Variation Id:
183303
dbSNP Id:
rs730882215
gnomAD v2:
16-78458766-G-A
gnomAD v4:
16-78424869-G-A
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78424869G>A , CM000678.2:g.78424869G>A | GRCh38 |
| NC_000016.9:g.78458766G>A , CM000678.1:g.78458766G>A | GRCh37 |
| NC_000016.8:g.77016267G>A | NCBI36 |
| NG_011698.1:g.330216G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000627394.3:c.606-1G>A | ENSP00000485925.2:n.606-1G>A | |
| ENST00000683929.1:c.606-1G>A | ENSP00000507689.1:n.606-1G>A | |
| ENST00000684632.1:n.985-1G>A | ||
| ENST00000566780.6:c.606-1G>A MANE Select | ENSP00000457230.1:n.606-1G>A | |
| ENST00000402655.6:c.409+309715G>A | ENSP00000384238.2:n.409+309715G>A | |
| ENST00000406884.6:c.516+260580G>A | ENSP00000384495.2:n.516+260580G>A | |
| ENST00000408984.7:c.606-1G>A | ENSP00000386161.3:n.606-1G>A | |
| ENST00000539474.6:c.409+309715G>A | ENSP00000445210.2:n.409+309715G>A | |
| ENST00000562639.5:n.294-1G>A | ||
| ENST00000566662.5:c.*224-1G>A | ENSP00000454331.1:n.*224-1G>A | |
| ENST00000566780.5:c.606-1G>A | ENSP00000457230.1:n.606-1G>A | |
| ENST00000569332.5:c.*403-1G>A | ENSP00000454788.1:n.*403-1G>A | |
| NM_001291997.1:c.267-1G>A | NP_001278926.1:n.267-1G>A | |
| NM_016373.3:c.606-1G>A | NP_057457.1:n.606-1G>A | |
| XM_006721195.2:c.606-1G>A | XP_006721258.1:n.606-1G>A | |
| XM_011523100.1:c.606-1G>A | XP_011521402.1:n.606-1G>A | |
| XM_011523101.1:c.606-1G>A | XP_011521403.1:n.606-1G>A | |
| XM_011523102.1:c.606-1G>A | XP_011521404.1:n.606-1G>A | |
| XM_011523103.1:c.606-1G>A | XP_011521405.1:n.606-1G>A | |
| XM_011523104.1:c.606-1G>A | XP_011521406.1:n.606-1G>A | |
| XR_933765.1:n.3806+5557C>T | ||
| XM_011523101.3:c.606-1G>A | XP_011521403.1:n.606-1G>A | |
| XM_011523103.3:c.606-1G>A | XP_011521405.1:n.606-1G>A | |
| XM_011523104.3:c.606-1G>A | XP_011521406.1:n.606-1G>A | |
| NM_016373.4:c.606-1G>A MANE Select | NP_057457.1:n.606-1G>A | |
| NM_001291997.2:c.267-1G>A | NP_001278926.1:n.267-1G>A |