Linked Data
ClinVar Variation Id:
567213
ClinVar RCV Id:
RCV000687227
dbSNP Id:
rs1559673607
gnomAD v4:
3-81642990-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81642990G>C , CM000665.2:g.81642990G>C | GRCh38 |
| NC_000003.11:g.81692141G>C , CM000665.1:g.81692141G>C | GRCh37 |
| NC_000003.10:g.81774831G>C | NCBI36 |
| NG_011810.1:g.123811C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.783C>G MANE Select | ENSP00000410833.2:p.Ser261Arg | |
| ENST00000429644.6:c.783C>G | ENSP00000410833.2:p.Ser261Arg | |
| ENST00000489715.1:c.660C>G | ENSP00000419638.1:p.Ser220Arg | |
| ENST00000498468.1:n.333C>G | ||
| NM_000158.3:c.783C>G | NP_000149.3:p.Ser261Arg | |
| NM_000158.4:c.783C>G MANE Select | NP_000149.4:p.Ser261Arg |