Linked Data
ClinVar Variation Id:
2237618
ClinVar RCV Id:
RCV004098613
dbSNP Id:
rs906191457
gnomAD v2:
1-8921444-T-C
gnomAD v3:
1-8861385-T-C
gnomAD v4:
1-8861385-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8861385T>C , CM000663.2:g.8861385T>C | GRCh38 |
| NC_000001.10:g.8921444T>C , CM000663.1:g.8921444T>C | GRCh37 |
| NC_000001.9:g.8844031T>C | NCBI36 |
| NG_029470.1:g.22708A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234590.10:c.1280A>G MANE Select | ENSP00000234590.4:p.Asn427Ser | |
| ENST00000464920.2:n.2165A>G | ||
| ENST00000646370.2:c.*1033A>G | ENSP00000495568.1:n.*1033A>G | |
| ENST00000647408.1:c.1280A>G | ENSP00000495530.1:p.Asn427Ser | |
| ENST00000234590.8:c.1280A>G | ENSP00000234590.4:p.Asn427Ser | |
| ENST00000464920.1:n.1886A>G | ||
| NM_001201483.1:c.1001A>G | NP_001188412.1:p.Asn334Ser | |
| NM_001428.3:c.1280A>G | NP_001419.1:p.Asn427Ser | |
| XM_006710433.1:c.1280A>G | XP_006710496.1:p.Asn427Ser | |
| NM_001201483.3:c.1001A>G | NP_001188412.1:p.Asn334Ser | |
| NM_001353346.2:c.1280A>G | NP_001340275.1:p.Asn427Ser | |
| NM_001428.5:c.1280A>G MANE Select | NP_001419.1:p.Asn427Ser | |
| NM_001201483.4:c.1001A>G | NP_001188412.1:p.Asn334Ser | |
| NM_001353346.3:c.1280A>G | NP_001340275.1:p.Asn427Ser |