Linked Data
ClinVar Variation Id:
1386022
ClinVar RCV Id:
RCV001889124
dbSNP Id:
rs984681123
gnomAD v2:
10-30602796-T-G
gnomAD v3:
10-30313867-T-G
gnomAD v4:
10-30313867-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313867T>G , CM000672.2:g.30313867T>G | GRCh38 |
| NC_000010.10:g.30602796T>G , CM000672.1:g.30602796T>G | GRCh37 |
| NC_000010.9:g.30642802T>G | NCBI36 |
| NG_028096.1:g.40472A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1491A>C MANE Select | ENSP00000263063.3:p.Lys497Asn | |
| ENST00000263063.8:c.1491A>C | ENSP00000263063.3:p.Lys497Asn | |
| ENST00000488290.5:n.3246A>C | ||
| NM_018109.3:c.1491A>C | NP_060579.3:p.Lys497Asn | |
| NM_018109.4:c.1491A>C MANE Select | NP_060579.3:p.Lys497Asn |