Linked Data
ClinVar Variation Id:
462856
ClinVar RCV Id:
RCV000560119
dbSNP Id:
rs1554646710
gnomAD v4:
9-6589193-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6589193A>C , CM000671.2:g.6589193A>C | GRCh38 |
| NC_000009.11:g.6589193A>C , CM000671.1:g.6589193A>C | GRCh37 |
| NC_000009.10:g.6579193A>C | NCBI36 |
| NG_016397.1:g.61500T>G , LRG_643:g.61500T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1580+2T>G MANE Select | ENSP00000370737.4:n.1580+2T>G | |
| ENST00000639364.1:n.1280+2T>G | ||
| ENST00000639443.1:n.1148+2T>G | ||
| ENST00000639954.1:n.1288+2T>G | ||
| ENST00000640592.1:n.1463+2T>G | ||
| ENST00000321612.6:c.1580+2T>G | ENSP00000370737.3:n.1580+2T>G | |
| NM_000170.2:c.1580+2T>G , LRG_643t1:c.1580+2T>G | NP_000161.2:n.1580+2T>G | |
| NM_000170.3:c.1580+2T>G MANE Select | NP_000161.2:n.1580+2T>G |