gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184376290C>G , CM000665.2:g.184376290C>G | GRCh38 |
| NC_000003.11:g.184094078C>G , CM000665.1:g.184094078C>G | GRCh37 |
| NC_000003.10:g.185576772C>G | NCBI36 |
| NG_012136.1:g.6855G>C | |
| NG_029559.1:g.1218C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645603.2:c.390G>C (THPO) | ENSP00000494281.2:p.Arg130Ser | |
| ENST00000647395.1:c.-31G>C (THPO) MANE Select | ENSP00000494504.1:n.-31G>C | |
| ENST00000649095.1:c.390G>C (THPO) | ENSP00000497904.1:p.Arg130Ser | |
| ENST00000204615.11:c.-31G>C (THPO) | ENSP00000204615.7:n.-31G>C | |
| ENST00000444495.1:c.2106+231583C>G (EIF2B5) | ENSP00000409142.1:n.2106+231583C>G | |
| ENST00000445696.6:c.-31G>C (THPO) | ENSP00000410763.2:n.-31G>C | |
| NM_000460.3:c.-31G>C (THPO) | NP_000451.1:n.-31G>C | |
| NM_001177597.2:c.-31G>C (THPO) | NP_001171068.1:n.-31G>C | |
| NM_001177598.2:c.-31G>C (THPO) | NP_001171069.1:n.-31G>C | |
| NM_001289997.1:c.-31G>C (THPO) | NP_001276926.1:n.-31G>C | |
| NM_001289998.1:c.-31G>C (THPO) | NP_001276927.1:n.-31G>C | |
| NM_001290003.1:c.390G>C (THPO) | NP_001276932.1:p.Arg130Ser | |
| NM_001290022.1:c.-31G>C (THPO) | NP_001276951.1:n.-31G>C | |
| NM_001290026.1:c.-31G>C (THPO) | NP_001276955.1:n.-31G>C | |
| NM_001290027.1:c.-31G>C (THPO) | NP_001276956.1:n.-31G>C | |
| NM_001290028.1:c.-31G>C (THPO) | NP_001276957.1:n.-31G>C | |
| XM_011513113.1:c.390G>C (THPO) | XP_011511415.1:p.Arg130Ser | |
| NM_000460.4:c.-31G>C (THPO) MANE Select | NP_000451.1:n.-31G>C | |
| XM_017007107.1:c.390G>C (THPO) | XP_016862596.1:p.Arg130Ser |