Linked Data
ClinVar Variation Id:
375298
ClinVar RCV Id:
RCV000416335
dbSNP Id:
rs778390161
ExAC:
17:61568314 G / A
gnomAD v2:
17-61568314-G-A
gnomAD v3:
17-63490953-G-A
gnomAD v4:
17-63490953-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63490953G>A , CM000679.2:g.63490953G>A | GRCh38 |
| NC_000017.10:g.61568314G>A , CM000679.1:g.61568314G>A | GRCh37 |
| NC_000017.9:g.58922046G>A | NCBI36 |
| NG_011648.1:g.18881G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290866.10:c.2642-1G>A MANE Select | ENSP00000290866.4:n.2642-1G>A | |
| ENST00000290863.10:c.920-1G>A | ENSP00000290863.6:n.920-1G>A | |
| ENST00000290866.9:c.2642-1G>A | ENSP00000290866.4:n.2642-1G>A | |
| ENST00000413513.7:c.920-1G>A | ENSP00000392247.3:n.920-1G>A | |
| ENST00000428043.5:c.2642-1G>A | ENSP00000397593.2:n.2642-1G>A | |
| ENST00000577418.5:n.146+925G>A | ||
| ENST00000577647.2:c.920-1G>A | ENSP00000464149.1:n.920-1G>A | |
| ENST00000578839.5:c.*520-1G>A | ENSP00000462110.2:n.*520-1G>A | |
| ENST00000579314.5:c.*371-1G>A | ENSP00000462599.1:n.*371-1G>A | |
| ENST00000582761.1:c.410-1G>A | ENSP00000462909.1:n.410-1G>A | |
| ENST00000583645.1:n.606G>A | ||
| ENST00000584865.5:n.588-1G>A | ||
| NM_000789.3:c.2642-1G>A | NP_000780.1:n.2642-1G>A | |
| NM_001178057.1:c.920-1G>A | NP_001171528.1:n.920-1G>A | |
| NM_152830.2:c.920-1G>A | NP_690043.1:n.920-1G>A | |
| XM_005257110.1:c.2093-1G>A | XP_005257167.1:n.2093-1G>A | |
| XM_006721737.2:c.980-1G>A | XP_006721800.2:n.980-1G>A | |
| XM_006721737.3:c.980-1G>A | XP_006721800.2:n.980-1G>A | |
| NM_000789.4:c.2642-1G>A MANE Select | NP_000780.1:n.2642-1G>A | |
| NM_001178057.2:c.920-1G>A | NP_001171528.1:n.920-1G>A | |
| NM_152830.3:c.920-1G>A | NP_690043.1:n.920-1G>A | |
| NM_001382700.1:c.2075-1G>A | NP_001369629.1:n.2075-1G>A | |
| NM_001382701.1:c.1790-1G>A | NP_001369630.1:n.1790-1G>A | |
| NM_001382702.1:c.380-1G>A | NP_001369631.1:n.380-1G>A | |
| NR_168483.1:n.1020-1G>A |