Linked Data
ClinVar Variation Id:
576253
ClinVar RCV Id:
RCV000698711
dbSNP Id:
rs1564181992
gnomAD v4:
9-129814022-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814022T>C , CM000671.2:g.129814022T>C | GRCh38 |
| NC_000009.11:g.132576301T>C , CM000671.1:g.132576301T>C | GRCh37 |
| NC_000009.10:g.131616122T>C | NCBI36 |
| NG_008049.1:g.15141A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.949A>G MANE Select | ENSP00000345719.4:p.Lys317Glu | |
| ENST00000651202.1:c.*217A>G | ENSP00000498222.1:n.*217A>G | |
| ENST00000351698.4:c.949A>G | ENSP00000345719.4:p.Lys317Glu | |
| ENST00000474192.1:n.533A>G | ||
| NM_000113.2:c.949A>G | NP_000104.1:p.Lys317Glu | |
| XR_929731.3:n.1144A>G | ||
| NM_000113.3:c.949A>G MANE Select | NP_000104.1:p.Lys317Glu |