Linked Data
ClinVar Variation Id:
223052
ClinVar RCV Id:
RCV000208705
dbSNP Id:
rs1060499533
gnomAD v2:
22-50964722-A-G
gnomAD v4:
22-50526293-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50526293A>G , CM000684.2:g.50526293A>G | GRCh38 |
| NC_000022.10:g.50964722A>G , CM000684.1:g.50964722A>G | GRCh37 |
| NC_000022.9:g.49311588A>G | NCBI36 |
| NG_011860.1:g.8793T>C , LRG_727:g.8793T>C | |
| NG_016235.1:g.5147T>C | |
| NG_021419.1:g.23078A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.1112T>C (TYMP) MANE Select | ENSP00000252029.3:p.Leu371Pro | |
| ENST00000395680.6:c.1112T>C (TYMP) | ENSP00000379037.1:p.Leu371Pro | |
| ENST00000395681.6:c.1112T>C (TYMP) | ENSP00000379038.1:p.Leu371Pro | |
| ENST00000543927.6:c.-61T>C (SCO2) | ENSP00000444433.1:n.-61T>C | |
| ENST00000651490.1:c.45T>C (TYMP) | ||
| ENST00000652401.1:c.613T>C (TYMP) | ||
| ENST00000252029.7:c.1112T>C (TYMP) | ENSP00000252029.3:p.Leu371Pro | |
| ENST00000395678.7:c.1112T>C (TYMP) | ENSP00000379036.3:p.Leu371Pro | |
| ENST00000395680.5:c.1112T>C (TYMP) | ENSP00000379037.1:p.Leu371Pro | |
| ENST00000395681.5:c.1112T>C (TYMP) | ENSP00000379038.1:p.Leu371Pro | |
| ENST00000423348.1:c.-61T>C | ENSP00000403570.1:n.-61T>C | |
| ENST00000425169.1:c.1013T>C (TYMP) | ENSP00000395875.1:p.Leu338Pro | |
| ENST00000476284.1:n.1118T>C (TYMP) | ||
| ENST00000487577.5:n.1399T>C (TYMP) | ||
| ENST00000543927.5:c.-61T>C | ENSP00000444433.1:n.-61T>C | |
| NM_001113755.2:c.1112T>C (TYMP) | NP_001107227.1:p.Leu371Pro | |
| NM_001113756.2:c.1112T>C (TYMP) | NP_001107228.1:p.Leu371Pro | |
| NM_001169109.1:c.-61T>C (SCO2) | NP_001162580.1:n.-61T>C | |
| NM_001257988.1:c.1112T>C , LRG_727t1:c.1112T>C (TYMP) | NP_001244917.1:p.Leu371Pro | |
| NM_001257989.1:c.1112T>C , LRG_727t2:c.1112T>C (TYMP) | NP_001244918.1:p.Leu371Pro | |
| NM_001953.4:c.1112T>C (TYMP) | NP_001944.1:p.Leu371Pro | |
| NM_001113755.3:c.1112T>C (TYMP) | NP_001107227.1:p.Leu371Pro | |
| NM_001113756.3:c.1112T>C (TYMP) | NP_001107228.1:p.Leu371Pro | |
| NM_001953.5:c.1112T>C (TYMP) MANE Select | NP_001944.1:p.Leu371Pro | |
| NM_001169109.2:c.-61T>C (SCO2) | NP_001162580.1:n.-61T>C |