Linked Data
ClinVar Variation Id:
2047684
ClinVar RCV Id:
RCV002926917
dbSNP Id:
rs745651803
ExAC:
13:48563133 T / G
gnomAD v2:
13-48563133-T-G
gnomAD v3:
13-47988998-T-G
gnomAD v4:
13-47988998-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.47988998T>G , CM000675.2:g.47988998T>G | GRCh38 |
| NC_000013.10:g.48563133T>G , CM000675.1:g.48563133T>G | GRCh37 |
| NC_000013.9:g.47461134T>G | NCBI36 |
| NG_008241.1:g.17330A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642944.1:c.98-17A>C | ENSP00000495674.1:n.98-17A>C | |
| ENST00000643023.1:c.272-17A>C | ENSP00000495664.1:n.272-17A>C | |
| ENST00000643584.1:c.272-17A>C | ENSP00000494987.1:n.272-17A>C | |
| ENST00000644338.1:c.272-17A>C | ENSP00000494723.1:n.272-17A>C | |
| ENST00000646602.1:c.272-17A>C | ENSP00000495250.1:n.272-17A>C | |
| ENST00000646804.1:c.98-17A>C | ENSP00000493977.1:n.98-17A>C | |
| ENST00000646932.1:c.272-17A>C MANE Select | ENSP00000494360.1:n.272-17A>C | |
| ENST00000647361.1:c.*65-17A>C | ENSP00000494607.1:n.*65-17A>C | |
| ENST00000378654.8:c.272-17A>C | ENSP00000367923.3:n.272-17A>C | |
| ENST00000433022.1:c.90+12182A>C | ENSP00000415091.1:n.90+12182A>C | |
| ENST00000434484.5:c.62-17A>C | ENSP00000392771.1:n.62-17A>C | |
| ENST00000470760.2:c.272-17A>C | ENSP00000488974.1:n.272-17A>C | |
| ENST00000497202.6:c.366-17A>C | ENSP00000489175.1:n.366-17A>C | |
| NM_003850.2:c.272-17A>C | NP_003841.1:n.272-17A>C | |
| XM_011535292.1:c.35-17A>C | XP_011533594.1:n.35-17A>C | |
| XM_011535293.1:c.-131-17A>C | XP_011533595.1:n.-131-17A>C | |
| XR_941688.1:n.316-17A>C | ||
| NM_003850.3:c.272-17A>C MANE Select | NP_003841.1:n.272-17A>C |