Linked Data
ClinVar Variation Id:
840590
ClinVar RCV Id:
RCV001042626
dbSNP Id:
rs764589805
gnomAD v2:
1-68903900-C-G
gnomAD v4:
1-68438217-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68438217C>G , CM000663.2:g.68438217C>G | GRCh38 |
| NC_000001.10:g.68903900C>G , CM000663.1:g.68903900C>G | GRCh37 |
| NC_000001.9:g.68676488C>G | NCBI36 |
| NG_008472.1:g.16743G>C | |
| NG_008472.2:g.16743G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1098G>C MANE Select | ENSP00000262340.5:p.Arg366Ser | |
| ENST00000262340.5:c.1098G>C | ENSP00000262340.5:p.Arg366Ser | |
| NM_000329.2:c.1098G>C | NP_000320.1:p.Arg366Ser | |
| XM_017002027.1:c.822G>C | XP_016857516.1:p.Arg274Ser | |
| NM_000329.3:c.1098G>C MANE Select | NP_000320.1:p.Arg366Ser |