Linked Data
ClinVar Variation Id:
828126
ClinVar RCV Id:
RCV001027995
dbSNP Id:
rs765023287
gnomAD v4:
22-50526357-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50526357G>A , CM000684.2:g.50526357G>A | GRCh38 |
| NC_000022.10:g.50964786G>A , CM000684.1:g.50964786G>A | GRCh37 |
| NC_000022.9:g.49311652G>A | NCBI36 |
| NG_011860.1:g.8729C>T , LRG_727:g.8729C>T | |
| NG_016235.1:g.5083C>T | |
| NG_021419.1:g.23142G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.1048C>T (TYMP) MANE Select | ENSP00000252029.3:p.Gln350Ter | |
| ENST00000395680.6:c.1048C>T (TYMP) | ENSP00000379037.1:p.Gln350Ter | |
| ENST00000395681.6:c.1048C>T (TYMP) | ENSP00000379038.1:p.Gln350Ter | |
| ENST00000543927.6:c.-125C>T (SCO2) | ENSP00000444433.1:n.-125C>T | |
| ENST00000650719.1:c.929C>T (TYMP) | ENSP00000498276.1:p.Ala310Val | |
| ENST00000652401.1:c.549C>T (TYMP) | ||
| ENST00000252029.7:c.1048C>T (TYMP) | ENSP00000252029.3:p.Gln350Ter | |
| ENST00000395678.7:c.1048C>T (TYMP) | ENSP00000379036.3:p.Gln350Ter | |
| ENST00000395680.5:c.1048C>T (TYMP) | ENSP00000379037.1:p.Gln350Ter | |
| ENST00000395681.5:c.1048C>T (TYMP) | ENSP00000379038.1:p.Gln350Ter | |
| ENST00000423348.1:c.-125C>T | ENSP00000403570.1:n.-125C>T | |
| ENST00000425169.1:c.949C>T (TYMP) | ENSP00000395875.1:p.Gln317Ter | |
| ENST00000476284.1:n.1054C>T (TYMP) | ||
| ENST00000487577.5:n.1335C>T (TYMP) | ||
| ENST00000543927.5:c.-125C>T | ENSP00000444433.1:n.-125C>T | |
| NM_001113755.2:c.1048C>T (TYMP) | NP_001107227.1:p.Gln350Ter | |
| NM_001113756.2:c.1048C>T (TYMP) | NP_001107228.1:p.Gln350Ter | |
| NM_001169109.1:c.-125C>T (SCO2) | NP_001162580.1:n.-125C>T | |
| NM_001257988.1:c.1048C>T , LRG_727t1:c.1048C>T (TYMP) | NP_001244917.1:p.Gln350Ter | |
| NM_001257989.1:c.1048C>T , LRG_727t2:c.1048C>T (TYMP) | NP_001244918.1:p.Gln350Ter | |
| NM_001953.4:c.1048C>T (TYMP) | NP_001944.1:p.Gln350Ter | |
| NM_001113755.3:c.1048C>T (TYMP) | NP_001107227.1:p.Gln350Ter | |
| NM_001113756.3:c.1048C>T (TYMP) | NP_001107228.1:p.Gln350Ter | |
| NM_001953.5:c.1048C>T (TYMP) MANE Select | NP_001944.1:p.Gln350Ter | |
| NM_001169109.2:c.-125C>T (SCO2) | NP_001162580.1:n.-125C>T |