Linked Data
ClinVar Variation Id:
2794057
ClinVar RCV Id:
RCV003607709
dbSNP Id:
rs2060594108
gnomAD v4:
22-49913675-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49913675T>C , CM000684.2:g.49913675T>C | GRCh38 |
| NC_000022.10:g.50307323T>C , CM000684.1:g.50307323T>C | GRCh37 |
| NC_000022.9:g.48693327T>C | NCBI36 |
| NG_008927.1:g.9784A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330817.11:c.91A>G MANE Select | ENSP00000333813.5:p.Thr31Ala | |
| ENST00000330817.10:c.91A>G | ENSP00000333813.5:p.Thr31Ala | |
| NM_024105.3:c.91A>G | NP_077010.1:p.Thr31Ala | |
| XM_011530369.1:c.91A>G | XP_011528671.1:p.Thr31Ala | |
| XM_011530370.1:c.91A>G | XP_011528672.1:p.Thr31Ala | |
| XM_011530371.1:c.91A>G | XP_011528673.1:p.Thr31Ala | |
| XM_011530371.2:c.91A>G | XP_011528673.1:p.Thr31Ala | |
| XM_017028936.1:c.91A>G | XP_016884425.1:p.Thr31Ala | |
| XM_017028937.1:c.91A>G | XP_016884426.1:p.Thr31Ala | |
| NM_024105.4:c.91A>G MANE Select | NP_077010.1:p.Thr31Ala |