Linked Data
ClinVar Variation Id:
1364108
ClinVar RCV Id:
RCV001937341
dbSNP Id:
rs984916696
gnomAD v3:
20-10673527-G-C
gnomAD v4:
20-10673527-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673527G>C , CM000682.2:g.10673527G>C | GRCh38 |
| NC_000020.10:g.10654175G>C , CM000682.1:g.10654175G>C | GRCh37 |
| NC_000020.9:g.10602175G>C | NCBI36 |
| NG_007496.1:g.5520C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.4C>G MANE Select | ENSP00000254958.4:p.Arg2Gly | |
| ENST00000254958.9:c.4C>G | ENSP00000254958.4:p.Arg2Gly | |
| NM_000214.2:c.4C>G | NP_000205.1:p.Arg2Gly | |
| NM_000214.3:c.4C>G MANE Select | NP_000205.1:p.Arg2Gly |