Linked Data
ClinVar Variation Id:
252295
dbSNP Id:
rs764493597
ExAC:
19:11238747 T / C
gnomAD v2:
19-11238747-T-C
gnomAD v3:
19-11128071-T-C
gnomAD v4:
19-11128071-T-C
ERepo:
CA040016/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128071T>C , CM000681.2:g.11128071T>C | GRCh38 |
| NC_000019.9:g.11238747T>C , CM000681.1:g.11238747T>C | GRCh37 |
| NC_000019.8:g.11099747T>C | NCBI36 |
| NG_009060.1:g.43691T>C , LRG_274:g.43691T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2633T>C | ENSP00000252444.6:p.Ile878Thr | |
| ENST00000559340.2:c.*444T>C | ENSP00000453696.2:n.*444T>C | |
| ENST00000560467.2:c.2255T>C | ENSP00000453513.2:p.Ile752Thr | |
| ENST00000558518.6:c.2375T>C MANE Select | ENSP00000454071.1:p.Ile792Thr | |
| ENST00000252444.9:c.2629T>C | ||
| ENST00000455727.6:c.1871T>C | ENSP00000397829.2:p.Ile624Thr | |
| ENST00000535915.5:c.2252T>C | ENSP00000440520.1:p.Ile751Thr | |
| ENST00000545707.5:c.1841T>C | ENSP00000437639.1:p.Ile614Thr | |
| ENST00000557933.5:c.2375T>C | ENSP00000453557.1:p.Ile792Thr | |
| ENST00000558013.5:c.2375T>C | ENSP00000453346.1:p.Ile792Thr | |
| ENST00000558518.5:c.2375T>C | ENSP00000454071.1:p.Ile792Thr | |
| ENST00000560628.1:n.108+417T>C | ||
| NM_000527.4:c.2375T>C , LRG_274t1:c.2375T>C | NP_000518.1:p.Ile792Thr | |
| NM_001195798.1:c.2375T>C | NP_001182727.1:p.Ile792Thr | |
| NM_001195799.1:c.2252T>C | NP_001182728.1:p.Ile751Thr | |
| NM_001195800.1:c.1871T>C | NP_001182729.1:p.Ile624Thr | |
| NM_001195803.1:c.1841T>C | NP_001182732.1:p.Ile614Thr | |
| XM_011528010.1:c.2312-1442T>C | XP_011526312.1:n.2312-1442T>C | |
| XM_011528011.1:c.1994T>C | XP_011526313.1:p.Ile665Thr | |
| XR_244074.2:n.2385T>C | ||
| XM_011528010.2:c.2312-1442T>C | XP_011526312.1:n.2312-1442T>C | |
| XR_001753685.2:n.2709T>C | ||
| XR_001753686.2:n.2352T>C | ||
| NM_000527.5:c.2375T>C MANE Select | NP_000518.1:p.Ile792Thr | |
| NM_001195798.2:c.2375T>C | NP_001182727.1:p.Ile792Thr | |
| NM_001195799.2:c.2252T>C | NP_001182728.1:p.Ile751Thr | |
| NM_001195800.2:c.1871T>C | NP_001182729.1:p.Ile624Thr | |
| NM_001195803.2:c.1841T>C | NP_001182732.1:p.Ile614Thr |