Linked Data
ClinVar Variation Id:
2896607
ClinVar RCV Id:
RCV003730992
dbSNP Id:
rs746926877
gnomAD v2:
3-184090840-G-A
gnomAD v3:
3-184373052-G-A
gnomAD v4:
3-184373052-G-A
COSMIC:
COSM2156478
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184373052G>A , CM000665.2:g.184373052G>A | GRCh38 |
| NC_000003.11:g.184090840G>A , CM000665.1:g.184090840G>A | GRCh37 |
| NC_000003.10:g.185573534G>A | NCBI36 |
| NG_012136.1:g.10093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645603.2:c.943C>T (THPO) | ENSP00000494281.2:p.Arg315Trp | |
| ENST00000647395.1:c.523C>T (THPO) MANE Select | ENSP00000494504.1:p.Arg175Trp | |
| ENST00000649095.1:c.943C>T (THPO) | ENSP00000497904.1:p.Arg315Trp | |
| ENST00000650229.1:c.506C>T (THPO) | ENSP00000497233.1:p.Ala169Val | |
| ENST00000204615.11:c.523C>T (THPO) | ENSP00000204615.7:p.Arg175Trp | |
| ENST00000421442.2:c.477+46C>T (THPO) | ENSP00000411704.2:n.477+46C>T | |
| ENST00000444495.1:c.2106+228345G>A (EIF2B5) | ENSP00000409142.1:n.2106+228345G>A | |
| ENST00000445696.6:c.511C>T (THPO) | ENSP00000410763.2:p.Arg171Trp | |
| ENST00000477594.1:n.164+46C>T (THPO) | ||
| NM_000460.3:c.523C>T (THPO) | NP_000451.1:p.Arg175Trp | |
| NM_001177597.2:c.511C>T (THPO) | NP_001171068.1:p.Arg171Trp | |
| NM_001177598.2:c.506C>T (THPO) | NP_001171069.1:p.Ala169Val | |
| NM_001289997.1:c.477+46C>T (THPO) | NP_001276926.1:n.477+46C>T | |
| NM_001289998.1:c.523C>T (THPO) | NP_001276927.1:p.Arg175Trp | |
| NM_001290003.1:c.943C>T (THPO) | NP_001276932.1:p.Arg315Trp | |
| NM_001290022.1:c.511C>T (THPO) | NP_001276951.1:p.Arg171Trp | |
| NM_001290026.1:c.506C>T (THPO) | NP_001276955.1:p.Ala169Val | |
| NM_001290027.1:c.477+46C>T (THPO) | NP_001276956.1:n.477+46C>T | |
| NM_001290028.1:c.523C>T (THPO) | NP_001276957.1:p.Arg175Trp | |
| XM_011513113.1:c.885+46C>T (THPO) | XP_011511415.1:n.885+46C>T | |
| NM_000460.4:c.523C>T (THPO) MANE Select | NP_000451.1:p.Arg175Trp | |
| XM_017007107.1:c.885+46C>T (THPO) | XP_016862596.1:n.885+46C>T |