Linked Data
ClinVar Variation Id:
344372
dbSNP Id:
rs780992873
ExAC:
3:184090846 C / T
gnomAD v2:
3-184090846-C-T
gnomAD v3:
3-184373058-C-T
gnomAD v4:
3-184373058-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184373058C>T , CM000665.2:g.184373058C>T | GRCh38 |
| NC_000003.11:g.184090846C>T , CM000665.1:g.184090846C>T | GRCh37 |
| NC_000003.10:g.185573540C>T | NCBI36 |
| NG_012136.1:g.10087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645603.2:c.937G>A (THPO) | ENSP00000494281.2:p.Val313Ile | |
| ENST00000647395.1:c.517G>A (THPO) MANE Select | ENSP00000494504.1:p.Val173Ile | |
| ENST00000649095.1:c.937G>A (THPO) | ENSP00000497904.1:p.Val313Ile | |
| ENST00000650229.1:c.500G>A (THPO) | ENSP00000497233.1:p.Arg167His | |
| ENST00000204615.11:c.517G>A (THPO) | ENSP00000204615.7:p.Val173Ile | |
| ENST00000421442.2:c.477+40G>A (THPO) | ENSP00000411704.2:n.477+40G>A | |
| ENST00000444495.1:c.2106+228351C>T (EIF2B5) | ENSP00000409142.1:n.2106+228351C>T | |
| ENST00000445696.6:c.505G>A (THPO) | ENSP00000410763.2:p.Val169Ile | |
| ENST00000477594.1:n.164+40G>A (THPO) | ||
| NM_000460.3:c.517G>A (THPO) | NP_000451.1:p.Val173Ile | |
| NM_001177597.2:c.505G>A (THPO) | NP_001171068.1:p.Val169Ile | |
| NM_001177598.2:c.500G>A (THPO) | NP_001171069.1:p.Arg167His | |
| NM_001289997.1:c.477+40G>A (THPO) | NP_001276926.1:n.477+40G>A | |
| NM_001289998.1:c.517G>A (THPO) | NP_001276927.1:p.Val173Ile | |
| NM_001290003.1:c.937G>A (THPO) | NP_001276932.1:p.Val313Ile | |
| NM_001290022.1:c.505G>A (THPO) | NP_001276951.1:p.Val169Ile | |
| NM_001290026.1:c.500G>A (THPO) | NP_001276955.1:p.Arg167His | |
| NM_001290027.1:c.477+40G>A (THPO) | NP_001276956.1:n.477+40G>A | |
| NM_001290028.1:c.517G>A (THPO) | NP_001276957.1:p.Val173Ile | |
| XM_011513113.1:c.885+40G>A (THPO) | XP_011511415.1:n.885+40G>A | |
| NM_000460.4:c.517G>A (THPO) MANE Select | NP_000451.1:p.Val173Ile | |
| XM_017007107.1:c.885+40G>A (THPO) | XP_016862596.1:n.885+40G>A |