Linked Data
ClinVar Variation Id:
2084087
ClinVar RCV Id:
RCV002994528
dbSNP Id:
rs140658452
ExAC:
3:184090610 G / C
gnomAD v2:
3-184090610-G-C
gnomAD v3:
3-184372822-G-C
gnomAD v4:
3-184372822-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184372822G>C , CM000665.2:g.184372822G>C | GRCh38 |
| NC_000003.11:g.184090610G>C , CM000665.1:g.184090610G>C | GRCh37 |
| NC_000003.10:g.185573304G>C | NCBI36 |
| NG_012136.1:g.10323C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645603.2:c.1173C>G (THPO) | ENSP00000494281.2:p.His391Gln | |
| ENST00000647395.1:c.753C>G (THPO) MANE Select | ENSP00000494504.1:p.His251Gln | |
| ENST00000649095.1:c.1173C>G (THPO) | ENSP00000497904.1:p.His391Gln | |
| ENST00000650229.1:c.736C>G (THPO) | ENSP00000497233.1:p.Arg246Gly | |
| ENST00000204615.11:c.753C>G (THPO) | ENSP00000204615.7:p.His251Gln | |
| ENST00000421442.2:c.637C>G (THPO) | ENSP00000411704.2:p.Arg213Gly | |
| ENST00000444495.1:c.2106+228115G>C (EIF2B5) | ENSP00000409142.1:n.2106+228115G>C | |
| ENST00000445696.6:c.741C>G (THPO) | ENSP00000410763.2:p.His247Gln | |
| NM_000460.3:c.753C>G (THPO) | NP_000451.1:p.His251Gln | |
| NM_001177597.2:c.741C>G (THPO) | NP_001171068.1:p.His247Gln | |
| NM_001177598.2:c.736C>G (THPO) | NP_001171069.1:p.Arg246Gly | |
| NM_001289997.1:c.637C>G (THPO) | NP_001276926.1:p.Arg213Gly | |
| NM_001289998.1:c.753C>G (THPO) | NP_001276927.1:p.His251Gln | |
| NM_001290003.1:c.1173C>G (THPO) | NP_001276932.1:p.His391Gln | |
| NM_001290022.1:c.741C>G (THPO) | NP_001276951.1:p.His247Gln | |
| NM_001290026.1:c.736C>G (THPO) | NP_001276955.1:p.Arg246Gly | |
| NM_001290027.1:c.637C>G (THPO) | NP_001276956.1:p.Arg213Gly | |
| NM_001290028.1:c.753C>G (THPO) | NP_001276957.1:p.His251Gln | |
| XM_011513113.1:c.1045C>G (THPO) | XP_011511415.1:p.Arg349Gly | |
| NM_000460.4:c.753C>G (THPO) MANE Select | NP_000451.1:p.His251Gln | |
| XM_017007107.1:c.1045C>G (THPO) | XP_016862596.1:p.Arg349Gly |