Linked Data
ClinVar Variation Id:
426426
dbSNP Id:
rs138819354
ExAC:
2:217311757 T / C
gnomAD v2:
2-217311757-T-C
gnomAD v3:
2-216447034-T-C
gnomAD v4:
2-216447034-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216447034T>C , CM000664.2:g.216447034T>C | GRCh38 |
| NC_000002.11:g.217311757T>C , CM000664.1:g.217311757T>C | GRCh37 |
| NC_000002.10:g.217020002T>C | NCBI36 |
| NG_009771.1:g.39621T>C , LRG_108:g.39621T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.1727T>C | ENSP00000394410.2:p.Ile576Thr | |
| ENST00000430374.6:c.1727T>C | ENSP00000405077.2:p.Ile576Thr | |
| ENST00000444508.6:c.1727T>C | ENSP00000398969.2:p.Ile576Thr | |
| ENST00000486983.2:n.258T>C | ||
| ENST00000697898.1:n.2088T>C | ||
| ENST00000697899.1:c.1493T>C | ENSP00000513470.1:p.Ile498Thr | |
| ENST00000697901.1:c.*585T>C | ENSP00000513471.1:n.*585T>C | |
| ENST00000697902.1:n.1959T>C | ||
| ENST00000697903.1:c.*214T>C | ENSP00000513472.1:n.*214T>C | |
| ENST00000697904.1:c.*214T>C | ENSP00000513473.1:n.*214T>C | |
| ENST00000697905.1:c.*214T>C | ENSP00000513474.1:n.*214T>C | |
| ENST00000697906.1:c.1493T>C | ENSP00000513475.1:p.Ile498Thr | |
| ENST00000697907.1:c.*585T>C | ENSP00000513476.1:n.*585T>C | |
| ENST00000697908.1:n.1524T>C | ||
| ENST00000697909.1:n.619T>C | ||
| ENST00000357276.9:c.1727T>C MANE Select | ENSP00000349823.4:p.Ile576Thr | |
| ENST00000357276.8:c.1727T>C | ENSP00000349823.4:p.Ile576Thr | |
| ENST00000358207.9:c.1727T>C | ENSP00000350940.5:p.Ile576Thr | |
| ENST00000392128.6:c.1253T>C | ENSP00000375974.2:p.Ile418Thr | |
| ENST00000445153.1:c.457T>C | ||
| NM_001127207.1:c.1727T>C | NP_001120679.1:p.Ile576Thr | |
| NM_014140.3:c.1727T>C , LRG_108t1:c.1727T>C | NP_054859.2:p.Ile576Thr | |
| XM_005246631.2:c.1727T>C | XP_005246688.1:p.Ile576Thr | |
| XM_005246632.1:c.1727T>C | XP_005246689.1:p.Ile576Thr | |
| XM_006712557.1:c.1661T>C | XP_006712620.1:p.Ile554Thr | |
| XM_005246632.2:c.1727T>C | XP_005246689.1:p.Ile576Thr | |
| XM_017004228.2:c.815T>C | XP_016859717.1:p.Ile272Thr | |
| NM_001127207.2:c.1727T>C | NP_001120679.1:p.Ile576Thr | |
| NM_014140.4:c.1727T>C MANE Select | NP_054859.2:p.Ile576Thr |