Linked Data
ClinVar Variation Id:
2595206
ClinVar RCV Id:
RCV004340299
dbSNP Id:
rs1055961523
gnomAD v4:
11-48137024-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48137024T>C , CM000673.2:g.48137024T>C | GRCh38 |
| NC_000011.9:g.48158576T>C , CM000673.1:g.48158576T>C | GRCh37 |
| NC_000011.8:g.48115152T>C | NCBI36 |
| NG_012209.1:g.161467T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.2237T>C | ENSP00000514003.1:p.Ile746Thr | |
| ENST00000418331.7:c.1895T>C MANE Select | ENSP00000400010.2:p.Ile632Thr | |
| ENST00000418331.6:c.1895T>C | ENSP00000400010.2:p.Ile632Thr | |
| ENST00000613246.4:c.1895T>C | ENSP00000477933.1:p.Ile632Thr | |
| ENST00000615445.4:c.1895T>C | ENSP00000479342.1:p.Ile632Thr | |
| NM_002843.3:c.1895T>C | NP_002834.3:p.Ile632Thr | |
| XM_011520249.1:c.1928T>C | XP_011518551.1:p.Ile643Thr | |
| XR_930883.1:n.2245T>C | ||
| XM_017018083.1:c.1973T>C | XP_016873572.1:p.Ile658Thr | |
| XM_017018084.1:c.1916T>C | XP_016873573.1:p.Ile639Thr | |
| XM_017018085.1:c.1847T>C | XP_016873574.1:p.Ile616Thr | |
| XR_930883.2:n.2304T>C | ||
| NM_002843.4:c.1895T>C MANE Select | NP_002834.3:p.Ile632Thr |