Linked Data
ClinVar Variation Id:
425267
dbSNP Id:
rs202076384
ExAC:
20:19981519 T / C
gnomAD v2:
20-19981519-T-C
gnomAD v3:
20-20000875-T-C
gnomAD v4:
20-20000875-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.20000875T>C , CM000682.2:g.20000875T>C | GRCh38 |
| NC_000020.10:g.19981519T>C , CM000682.1:g.19981519T>C | GRCh37 |
| NC_000020.9:g.19929519T>C | NCBI36 |
| NG_016310.1:g.116310T>C | |
| NG_016310.2:g.116310T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255006.12:c.2627T>C MANE Select | ENSP00000255006.7:p.Ile876Thr | |
| ENST00000648440.1:c.2627T>C | ENSP00000498085.1:p.Ile876Thr | |
| ENST00000255006.10:c.2774T>C | ENSP00000255006.6:p.Ile925Thr | |
| ENST00000440354.2:c.1328T>C | ENSP00000391239.2:p.Ile443Thr | |
| ENST00000484638.1:n.2471T>C | ||
| NM_001242581.1:c.2774T>C | NP_001229510.1:p.Ile925Thr | |
| NM_018993.3:c.2627T>C | NP_061866.1:p.Ile876Thr | |
| XM_005260731.2:c.2627T>C | XP_005260788.1:p.Ile876Thr | |
| XM_005260732.2:c.2492T>C | XP_005260789.1:p.Ile831Thr | |
| XM_005260733.2:c.2009T>C | XP_005260790.1:p.Ile670Thr | |
| XM_006723574.2:c.2627T>C | XP_006723637.1:p.Ile876Thr | |
| XM_006723575.2:c.2627T>C | XP_006723638.1:p.Ile876Thr | |
| XM_006723577.2:c.2627T>C | XP_006723640.1:p.Ile876Thr | |
| XM_011529255.1:c.2723T>C | XP_011527557.1:p.Ile908Thr | |
| XM_011529256.1:c.2783T>C | XP_011527558.1:p.Ile928Thr | |
| XM_011529257.1:c.2627T>C | XP_011527559.1:p.Ile876Thr | |
| XM_011529258.1:c.2627T>C | XP_011527560.1:p.Ile876Thr | |
| XM_011529259.1:c.2468T>C | XP_011527561.1:p.Ile823Thr | |
| XM_006723574.4:c.2627T>C | XP_006723637.1:p.Ile876Thr | |
| XM_006723575.4:c.2627T>C | XP_006723638.1:p.Ile876Thr | |
| XM_011529255.2:c.2828T>C | XP_011527557.2:p.Ile943Thr | |
| XM_011529257.2:c.2627T>C | XP_011527559.1:p.Ile876Thr | |
| XM_011529258.2:c.2627T>C | XP_011527560.1:p.Ile876Thr | |
| XM_011529259.2:c.2468T>C | XP_011527561.1:p.Ile823Thr | |
| XM_017027887.1:c.2774T>C | XP_016883376.1:p.Ile925Thr | |
| XM_017027888.1:c.2774T>C | XP_016883377.1:p.Ile925Thr | |
| XM_017027889.1:c.2717T>C | XP_016883378.1:p.Ile906Thr | |
| XM_017027890.1:c.2627T>C | XP_016883379.1:p.Ile876Thr | |
| XM_017027891.1:c.2492T>C | XP_016883380.1:p.Ile831Thr | |
| XM_017027892.1:c.2468T>C | XP_016883381.1:p.Ile823Thr | |
| XM_024451911.1:c.2627T>C | XP_024307679.1:p.Ile876Thr | |
| XM_024451912.1:c.2627T>C | XP_024307680.1:p.Ile876Thr | |
| XM_024451913.1:c.2627T>C | XP_024307681.1:p.Ile876Thr | |
| NM_001242581.2:c.2774T>C | NP_001229510.1:p.Ile925Thr | |
| NM_001378238.1:c.2009T>C | NP_001365167.1:p.Ile670Thr | |
| NM_018993.4:c.2627T>C MANE Select | NP_061866.1:p.Ile876Thr |