Linked Data
ClinVar Variation Id:
441025
ClinVar RCV Id:
RCV000509436
dbSNP Id:
rs1416942996
gnomAD v2:
6-131919705-A-G
gnomAD v3:
6-131598565-A-G
gnomAD v4:
6-131598565-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131598565A>G , CM000668.2:g.131598565A>G | GRCh38 |
| NC_000006.11:g.131919705A>G , CM000668.1:g.131919705A>G | GRCh37 |
| NC_000006.10:g.131961398A>G | NCBI36 |
| NG_031860.1:g.34659T>C | |
| NG_031860.2:g.34659T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368068.8:c.2417T>C MANE Select | ENSP00000357047.3:p.Ile806Thr | |
| ENST00000354577.8:c.2435T>C | ENSP00000346588.4:p.Ile812Thr | |
| ENST00000368053.8:c.2435T>C | ENSP00000357032.4:p.Ile812Thr | |
| ENST00000368058.5:c.2435T>C | ENSP00000357037.1:p.Ile812Thr | |
| ENST00000368060.7:c.2417T>C | ENSP00000357039.3:p.Ile806Thr | |
| ENST00000368068.7:c.2417T>C | ENSP00000357047.3:p.Ile806Thr | |
| NM_001270521.1:c.2417T>C | NP_001257450.1:p.Ile806Thr | |
| NM_001270522.1:c.2417T>C | NP_001257451.1:p.Ile806Thr | |
| NM_004830.3:c.2417T>C | NP_004821.2:p.Ile806Thr | |
| NM_015979.3:c.2435T>C | NP_057063.2:p.Ile812Thr | |
| XM_005267223.1:c.2435T>C | XP_005267280.1:p.Ile812Thr | |
| XM_011536257.1:c.2321T>C | XP_011534559.1:p.Ile774Thr | |
| XM_005267223.3:c.2435T>C | XP_005267280.1:p.Ile812Thr | |
| XM_011536257.3:c.2321T>C | XP_011534559.1:p.Ile774Thr | |
| XM_017011501.1:c.1484T>C | XP_016866990.1:p.Ile495Thr | |
| NM_004830.4:c.2417T>C MANE Select | NP_004821.2:p.Ile806Thr | |
| NM_001270521.2:c.2417T>C | NP_001257450.1:p.Ile806Thr | |
| NM_001270522.2:c.2417T>C | NP_001257451.1:p.Ile806Thr | |
| NM_001376517.1:c.2435T>C | NP_001363446.1:p.Ile812Thr | |
| NM_001376518.1:c.2363T>C | NP_001363447.1:p.Ile788Thr | |
| NM_001376519.1:c.2417T>C | NP_001363448.1:p.Ile806Thr | |
| NM_001376520.1:c.2276T>C | NP_001363449.1:p.Ile759Thr | |
| NM_001376521.1:c.2417T>C | NP_001363450.1:p.Ile806Thr | |
| NM_001376522.1:c.2417T>C | NP_001363451.1:p.Ile806Thr | |
| NM_001376523.1:c.2162T>C | NP_001363452.1:p.Ile721Thr | |
| NM_001376524.1:c.2220+1473T>C | NP_001363453.1:n.2220+1473T>C | |
| NM_015979.4:c.2435T>C | NP_057063.2:p.Ile812Thr |