Linked Data
ClinVar Variation Id:
497712
dbSNP Id:
rs200666378
ExAC:
3:184093348 C / A
gnomAD v2:
3-184093348-C-A
gnomAD v3:
3-184375560-C-A
gnomAD v4:
3-184375560-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184375560C>A , CM000665.2:g.184375560C>A | GRCh38 |
| NC_000003.11:g.184093348C>A , CM000665.1:g.184093348C>A | GRCh37 |
| NC_000003.10:g.185576042C>A | NCBI36 |
| NG_012136.1:g.7585G>T | |
| NG_029559.1:g.488C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645603.2:c.603G>T (THPO) | ENSP00000494281.2:p.Leu201= | |
| ENST00000647395.1:c.183G>T (THPO) MANE Select | ENSP00000494504.1:p.Leu61= | |
| ENST00000649095.1:c.603G>T (THPO) | ENSP00000497904.1:p.Leu201= | |
| ENST00000650229.1:c.183G>T (THPO) | ENSP00000497233.1:p.Leu61= | |
| ENST00000204615.11:c.183G>T (THPO) | ENSP00000204615.7:p.Leu61= | |
| ENST00000421442.2:c.183G>T (THPO) | ENSP00000411704.2:p.Leu61= | |
| ENST00000444495.1:c.2106+230853C>A (EIF2B5) | ENSP00000409142.1:n.2106+230853C>A | |
| ENST00000445696.6:c.183G>T (THPO) | ENSP00000410763.2:p.Leu61= | |
| NM_000460.3:c.183G>T (THPO) | NP_000451.1:p.Leu61= | |
| NM_001177597.2:c.183G>T (THPO) | NP_001171068.1:p.Leu61= | |
| NM_001177598.2:c.183G>T (THPO) | NP_001171069.1:p.Leu61= | |
| NM_001289997.1:c.183G>T (THPO) | NP_001276926.1:p.Leu61= | |
| NM_001289998.1:c.183G>T (THPO) | NP_001276927.1:p.Leu61= | |
| NM_001290003.1:c.603G>T (THPO) | NP_001276932.1:p.Leu201= | |
| NM_001290022.1:c.183G>T (THPO) | NP_001276951.1:p.Leu61= | |
| NM_001290026.1:c.183G>T (THPO) | NP_001276955.1:p.Leu61= | |
| NM_001290027.1:c.183G>T (THPO) | NP_001276956.1:p.Leu61= | |
| NM_001290028.1:c.183G>T (THPO) | NP_001276957.1:p.Leu61= | |
| XM_011513113.1:c.603G>T (THPO) | XP_011511415.1:p.Leu201= | |
| NM_000460.4:c.183G>T (THPO) MANE Select | NP_000451.1:p.Leu61= | |
| XM_017007107.1:c.603G>T (THPO) | XP_016862596.1:p.Leu201= |