Linked Data
ClinVar Variation Id:
1493880
ClinVar RCV Id:
RCV001986813
dbSNP Id:
rs2122623617
gnomAD v4:
20-10658572-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658572T>C , CM000682.2:g.10658572T>C | GRCh38 |
| NC_000020.10:g.10639220T>C , CM000682.1:g.10639220T>C | GRCh37 |
| NC_000020.9:g.10587220T>C | NCBI36 |
| NG_007496.1:g.20475A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.590A>G MANE Select | ENSP00000254958.4:p.Asn197Ser | |
| ENST00000254958.9:c.590A>G | ENSP00000254958.4:p.Asn197Ser | |
| ENST00000423891.6:n.456A>G | ||
| NM_000214.2:c.590A>G | NP_000205.1:p.Asn197Ser | |
| NM_000214.3:c.590A>G MANE Select | NP_000205.1:p.Asn197Ser |