Linked Data
ClinVar Variation Id:
223064
dbSNP Id:
rs797044455
gnomAD v2:
22-50964571-C-T
gnomAD v3:
22-50526142-C-T
gnomAD v4:
22-50526142-C-T
COSMIC:
COSM6049819
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50526142C>T , CM000684.2:g.50526142C>T | GRCh38 |
| NC_000022.10:g.50964571C>T , CM000684.1:g.50964571C>T | GRCh37 |
| NC_000022.9:g.49311437C>T | NCBI36 |
| NG_011860.1:g.8944G>A , LRG_727:g.8944G>A | |
| NG_016235.1:g.5298G>A | |
| NG_021419.1:g.22927C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.1160-1G>A (TYMP) MANE Select | ENSP00000252029.3:n.1160-1G>A | |
| ENST00000395680.6:c.1160-1G>A (TYMP) | ENSP00000379037.1:n.1160-1G>A | |
| ENST00000395681.6:c.1174G>A (TYMP) | ENSP00000379038.1:p.Gly392Ser | |
| ENST00000543927.6:c.-14+104G>A (SCO2) | ENSP00000444433.1:n.-14+104G>A | |
| ENST00000638598.2:c.-155G>A (SCO2) | ENSP00000491753.2:n.-155G>A | |
| ENST00000651490.1:c.92+104G>A (TYMP) | ||
| ENST00000652401.1:c.661-1G>A (TYMP) | ||
| ENST00000252029.7:c.1160-1G>A (TYMP) | ENSP00000252029.3:n.1160-1G>A | |
| ENST00000395678.7:c.1160-1G>A (TYMP) | ENSP00000379036.3:n.1160-1G>A | |
| ENST00000395680.5:c.1160-1G>A (TYMP) | ENSP00000379037.1:n.1160-1G>A | |
| ENST00000395681.5:c.1174G>A (TYMP) | ENSP00000379038.1:p.Gly392Ser | |
| ENST00000423348.1:c.-14+104G>A | ENSP00000403570.1:n.-14+104G>A | |
| ENST00000425169.1:c.1061-1G>A (TYMP) | ENSP00000395875.1:n.1061-1G>A | |
| ENST00000439934.5:c.-155G>A | ENSP00000415642.1:n.-155G>A | |
| ENST00000476284.1:n.1269G>A (TYMP) | ||
| ENST00000487577.5:n.1447-1G>A (TYMP) | ||
| ENST00000535425.5:c.-155G>A | ENSP00000444242.1:n.-155G>A | |
| ENST00000543927.5:c.-14+104G>A | ENSP00000444433.1:n.-14+104G>A | |
| NM_001113755.2:c.1160-1G>A (TYMP) | NP_001107227.1:n.1160-1G>A | |
| NM_001113756.2:c.1160-1G>A (TYMP) | NP_001107228.1:n.1160-1G>A | |
| NM_001169109.1:c.-14+104G>A (SCO2) | NP_001162580.1:n.-14+104G>A | |
| NM_001169110.1:c.-155G>A (SCO2) | NP_001162581.1:n.-155G>A | |
| NM_001257988.1:c.1160-1G>A , LRG_727t1:c.1160-1G>A (TYMP) | NP_001244917.1:n.1160-1G>A | |
| NM_001257989.1:c.1174G>A , LRG_727t2:c.1174G>A (TYMP) | NP_001244918.1:p.Gly392Ser | |
| NM_001953.4:c.1160-1G>A (TYMP) | NP_001944.1:n.1160-1G>A | |
| NM_001113755.3:c.1160-1G>A (TYMP) | NP_001107227.1:n.1160-1G>A | |
| NM_001113756.3:c.1160-1G>A (TYMP) | NP_001107228.1:n.1160-1G>A | |
| NM_001953.5:c.1160-1G>A (TYMP) MANE Select | NP_001944.1:n.1160-1G>A | |
| NM_001169109.2:c.-14+104G>A (SCO2) | NP_001162580.1:n.-14+104G>A |