Linked Data
ClinVar Variation Id:
1602024
ClinVar RCV Id:
RCV002127676
dbSNP Id:
rs765177412
ExAC:
9:6556144 A / C
gnomAD v2:
9-6556144-A-C
gnomAD v4:
9-6556144-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556144A>C , CM000671.2:g.6556144A>C | GRCh38 |
| NC_000009.11:g.6556144A>C , CM000671.1:g.6556144A>C | GRCh37 |
| NC_000009.10:g.6546144A>C | NCBI36 |
| NG_016397.1:g.94549T>G , LRG_643:g.94549T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2202+9T>G MANE Select | ENSP00000370737.4:n.2202+9T>G | |
| ENST00000638233.1:n.637+9T>G | ||
| ENST00000638661.1:c.402+9T>G | ENSP00000491369.1:n.402+9T>G | |
| ENST00000638694.1:n.389+9T>G | ||
| ENST00000639318.1:c.402+9T>G | ENSP00000491932.1:n.402+9T>G | |
| ENST00000639364.1:n.1902+9T>G | ||
| ENST00000639443.1:n.1770+9T>G | ||
| ENST00000639954.1:n.1910+9T>G | ||
| ENST00000640505.1:n.441+9T>G | ||
| ENST00000321612.6:c.2202+9T>G | ENSP00000370737.3:n.2202+9T>G | |
| NM_000170.2:c.2202+9T>G , LRG_643t1:c.2202+9T>G | NP_000161.2:n.2202+9T>G | |
| NM_000170.3:c.2202+9T>G MANE Select | NP_000161.2:n.2202+9T>G |