Linked Data
ClinVar Variation Id:
459162
dbSNP Id:
rs1225871505
gnomAD v3:
1-17023969-T-C
gnomAD v4:
1-17023969-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17023969T>C , CM000663.2:g.17023969T>C | GRCh38 |
| NC_000001.10:g.17350464T>C , CM000663.1:g.17350464T>C | GRCh37 |
| NC_000001.9:g.17223051T>C | NCBI36 |
| NG_012340.1:g.35202A>G , LRG_316:g.35202A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.471+4A>G | ENSP00000481376.2:n.471+4A>G | |
| ENST00000491274.6:c.600+4A>G | ENSP00000480482.2:n.600+4A>G | |
| ENST00000375499.8:c.642+4A>G MANE Select | ENSP00000364649.3:n.642+4A>G | |
| ENST00000375499.7:c.642+4A>G | ENSP00000364649.3:n.642+4A>G | |
| ENST00000485515.5:n.576+4A>G | ||
| NM_003000.2:c.642+4A>G , LRG_316t1:c.642+4A>G | NP_002991.2:n.642+4A>G | |
| NM_003000.3:c.642+4A>G MANE Select | NP_002991.2:n.642+4A>G |