Linked Data
ClinVar Variation Id:
5976
ClinVar RCV Id:
RCV000020560
dbSNP Id:
rs113994161
ExAC:
13:48562675 C / T
gnomAD v2:
13-48562675-C-T
gnomAD v4:
13-47988540-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.47988540C>T , CM000675.2:g.47988540C>T | GRCh38 |
| NC_000013.10:g.48562675C>T , CM000675.1:g.48562675C>T | GRCh37 |
| NC_000013.9:g.47460676C>T | NCBI36 |
| NG_008241.1:g.17788G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634878.2:c.8+1G>A | ||
| ENST00000642944.1:c.360+1G>A | ENSP00000495674.1:n.360+1G>A | |
| ENST00000643023.1:c.534+1G>A | ENSP00000495664.1:n.534+1G>A | |
| ENST00000643584.1:c.534+1G>A | ENSP00000494987.1:n.534+1G>A | |
| ENST00000644338.1:c.534+1G>A | ENSP00000494723.1:n.534+1G>A | |
| ENST00000646602.1:c.534+1G>A | ENSP00000495250.1:n.534+1G>A | |
| ENST00000646804.1:c.360+1G>A | ENSP00000493977.1:n.360+1G>A | |
| ENST00000646932.1:c.534+1G>A MANE Select | ENSP00000494360.1:n.534+1G>A | |
| ENST00000647361.1:c.*327+1G>A | ENSP00000494607.1:n.*327+1G>A | |
| ENST00000378654.8:c.534+1G>A | ENSP00000367923.3:n.534+1G>A | |
| ENST00000433022.1:c.90+12640G>A | ENSP00000415091.1:n.90+12640G>A | |
| ENST00000434484.5:c.324+1G>A | ENSP00000392771.1:n.324+1G>A | |
| ENST00000470760.2:c.535G>A | ENSP00000488974.1:p.Val179Met | |
| ENST00000497202.6:c.628+1G>A | ENSP00000489175.1:n.628+1G>A | |
| ENST00000634878.1:c.8+1G>A | ||
| NM_003850.2:c.534+1G>A | NP_003841.1:n.534+1G>A | |
| XM_011535292.1:c.297+1G>A | XP_011533594.1:n.297+1G>A | |
| XM_011535293.1:c.132+1G>A | XP_011533595.1:n.132+1G>A | |
| XR_941688.1:n.578+1G>A | ||
| NM_003850.3:c.534+1G>A MANE Select | NP_003841.1:n.534+1G>A |