Linked Data
ClinVar Variation Id:
1977498
ClinVar RCV Id:
RCV002750751
dbSNP Id:
rs369335287
gnomAD v2:
1-68895537-C-G
gnomAD v3:
1-68429854-C-G
gnomAD v4:
1-68429854-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429854C>G , CM000663.2:g.68429854C>G | GRCh38 |
| NC_000001.10:g.68895537C>G , CM000663.1:g.68895537C>G | GRCh37 |
| NC_000001.9:g.68668125C>G | NCBI36 |
| NG_008472.1:g.25106G>C | |
| NG_008472.2:g.25106G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1524G>C MANE Select | ENSP00000262340.5:p.Lys508Asn | |
| ENST00000262340.5:c.1524G>C | ENSP00000262340.5:p.Lys508Asn | |
| NM_000329.2:c.1524G>C | NP_000320.1:p.Lys508Asn | |
| XM_017002027.1:c.1248G>C | XP_016857516.1:p.Lys416Asn | |
| NM_000329.3:c.1524G>C MANE Select | NP_000320.1:p.Lys508Asn |