Linked Data
ClinVar Variation Id:
223051
ClinVar RCV Id:
RCV000208689
dbSNP Id:
rs1060499532
gnomAD v4:
22-50526338-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50526338A>G , CM000684.2:g.50526338A>G | GRCh38 |
| NC_000022.10:g.50964767A>G , CM000684.1:g.50964767A>G | GRCh37 |
| NC_000022.9:g.49311633A>G | NCBI36 |
| NG_011860.1:g.8748T>C , LRG_727:g.8748T>C | |
| NG_016235.1:g.5102T>C | |
| NG_021419.1:g.23123A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.1067T>C (TYMP) MANE Select | ENSP00000252029.3:p.Leu356Pro | |
| ENST00000395680.6:c.1067T>C (TYMP) | ENSP00000379037.1:p.Leu356Pro | |
| ENST00000395681.6:c.1067T>C (TYMP) | ENSP00000379038.1:p.Leu356Pro | |
| ENST00000543927.6:c.-106T>C (SCO2) | ENSP00000444433.1:n.-106T>C | |
| ENST00000650719.1:c.948T>C (TYMP) | ENSP00000498276.1:p.Ser316= | |
| ENST00000652401.1:c.568T>C (TYMP) | ||
| ENST00000252029.7:c.1067T>C (TYMP) | ENSP00000252029.3:p.Leu356Pro | |
| ENST00000395678.7:c.1067T>C (TYMP) | ENSP00000379036.3:p.Leu356Pro | |
| ENST00000395680.5:c.1067T>C (TYMP) | ENSP00000379037.1:p.Leu356Pro | |
| ENST00000395681.5:c.1067T>C (TYMP) | ENSP00000379038.1:p.Leu356Pro | |
| ENST00000423348.1:c.-106T>C | ENSP00000403570.1:n.-106T>C | |
| ENST00000425169.1:c.968T>C (TYMP) | ENSP00000395875.1:p.Leu323Pro | |
| ENST00000476284.1:n.1073T>C (TYMP) | ||
| ENST00000487577.5:n.1354T>C (TYMP) | ||
| ENST00000543927.5:c.-106T>C | ENSP00000444433.1:n.-106T>C | |
| NM_001113755.2:c.1067T>C (TYMP) | NP_001107227.1:p.Leu356Pro | |
| NM_001113756.2:c.1067T>C (TYMP) | NP_001107228.1:p.Leu356Pro | |
| NM_001169109.1:c.-106T>C (SCO2) | NP_001162580.1:n.-106T>C | |
| NM_001257988.1:c.1067T>C , LRG_727t1:c.1067T>C (TYMP) | NP_001244917.1:p.Leu356Pro | |
| NM_001257989.1:c.1067T>C , LRG_727t2:c.1067T>C (TYMP) | NP_001244918.1:p.Leu356Pro | |
| NM_001953.4:c.1067T>C (TYMP) | NP_001944.1:p.Leu356Pro | |
| NM_001113755.3:c.1067T>C (TYMP) | NP_001107227.1:p.Leu356Pro | |
| NM_001113756.3:c.1067T>C (TYMP) | NP_001107228.1:p.Leu356Pro | |
| NM_001953.5:c.1067T>C (TYMP) MANE Select | NP_001944.1:p.Leu356Pro | |
| NM_001169109.2:c.-106T>C (SCO2) | NP_001162580.1:n.-106T>C |