Linked Data
ClinVar Variation Id:
1407954
ClinVar RCV Id:
RCV001909726
dbSNP Id:
rs199926195
gnomAD v2:
3-10191620-C-A
gnomAD v4:
3-10149936-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149936C>A , CM000665.2:g.10149936C>A | GRCh38 |
| NC_000003.11:g.10191620C>A , CM000665.1:g.10191620C>A | GRCh37 |
| NC_000003.10:g.10166620C>A | NCBI36 |
| NG_008212.3:g.13302C>A , LRG_322:g.13302C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*290C>A | ENSP00000512434.1:n.*290C>A | |
| ENST00000696143.1:c.749C>A | ENSP00000512435.1:n.749C>A | |
| ENST00000696153.1:c.724C>A | ENSP00000512444.1:p.Arg242Ser | |
| ENST00000256474.3:c.613C>A MANE Select | ENSP00000256474.3:p.Arg205Ser | |
| ENST00000256474.2:c.613C>A | ENSP00000256474.2:p.Arg205Ser | |
| ENST00000345392.2:c.490C>A | ENSP00000344757.2:p.Arg164Ser | |
| ENST00000477538.1:n.749C>A | ||
| NM_000551.3:c.613C>A , LRG_322t1:c.613C>A | NP_000542.1:p.Arg205Ser | |
| NM_198156.2:c.490C>A | NP_937799.1:p.Arg164Ser | |
| NM_001354723.1:c.*167C>A | NP_001341652.1:n.*167C>A | |
| NM_000551.4:c.613C>A MANE Select | NP_000542.1:p.Arg205Ser | |
| NM_001354723.2:c.*167C>A | NP_001341652.1:n.*167C>A | |
| NM_198156.3:c.490C>A | NP_937799.1:p.Arg164Ser |