Linked Data
ClinVar Variation Id:
223069
dbSNP Id:
rs1064792878
gnomAD v3:
22-50526000-C-T
gnomAD v4:
22-50526000-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50526000C>T , CM000684.2:g.50526000C>T | GRCh38 |
| NC_000022.10:g.50964429C>T , CM000684.1:g.50964429C>T | GRCh37 |
| NC_000022.9:g.49311295C>T | NCBI36 |
| NG_011860.1:g.9086G>A , LRG_727:g.9086G>A | |
| NG_016235.1:g.5440G>A | |
| NG_021419.1:g.22785C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.1300+1G>A (TYMP) MANE Select | ENSP00000252029.3:n.1300+1G>A | |
| ENST00000395680.6:c.1300+1G>A (TYMP) | ENSP00000379037.1:n.1300+1G>A | |
| ENST00000395681.6:c.1315+1G>A (TYMP) | ENSP00000379038.1:n.1315+1G>A | |
| ENST00000543927.6:c.-14+246G>A (SCO2) | ENSP00000444433.1:n.-14+246G>A | |
| ENST00000638598.2:c.-14+1G>A (SCO2) | ENSP00000491753.2:n.-14+1G>A | |
| ENST00000651490.1:c.93-82G>A (TYMP) | ||
| ENST00000652401.1:c.801+1G>A (TYMP) | ||
| ENST00000252029.7:c.1300+1G>A (TYMP) | ENSP00000252029.3:n.1300+1G>A | |
| ENST00000395678.7:c.1300+1G>A (TYMP) | ENSP00000379036.3:n.1300+1G>A | |
| ENST00000395680.5:c.1300+1G>A (TYMP) | ENSP00000379037.1:n.1300+1G>A | |
| ENST00000395681.5:c.1315+1G>A (TYMP) | ENSP00000379038.1:n.1315+1G>A | |
| ENST00000423348.1:c.-14+246G>A | ENSP00000403570.1:n.-14+246G>A | |
| ENST00000425169.1:c.1201+1G>A (TYMP) | ENSP00000395875.1:n.1201+1G>A | |
| ENST00000439934.5:c.-14+1G>A | ENSP00000415642.1:n.-14+1G>A | |
| ENST00000476284.1:n.1410+1G>A (TYMP) | ||
| ENST00000487577.5:n.1587+1G>A (TYMP) | ||
| ENST00000535425.5:c.-14+1G>A | ENSP00000444242.1:n.-14+1G>A | |
| ENST00000543927.5:c.-14+246G>A | ENSP00000444433.1:n.-14+246G>A | |
| NM_001113755.2:c.1300+1G>A (TYMP) | NP_001107227.1:n.1300+1G>A | |
| NM_001113756.2:c.1300+1G>A (TYMP) | NP_001107228.1:n.1300+1G>A | |
| NM_001169109.1:c.-14+246G>A (SCO2) | NP_001162580.1:n.-14+246G>A | |
| NM_001169110.1:c.-14+1G>A (SCO2) | NP_001162581.1:n.-14+1G>A | |
| NM_001257988.1:c.1300+1G>A , LRG_727t1:c.1300+1G>A (TYMP) | NP_001244917.1:n.1300+1G>A | |
| NM_001257989.1:c.1315+1G>A , LRG_727t2:c.1315+1G>A (TYMP) | NP_001244918.1:n.1315+1G>A | |
| NM_001953.4:c.1300+1G>A (TYMP) | NP_001944.1:n.1300+1G>A | |
| NM_001113755.3:c.1300+1G>A (TYMP) | NP_001107227.1:n.1300+1G>A | |
| NM_001113756.3:c.1300+1G>A (TYMP) | NP_001107228.1:n.1300+1G>A | |
| NM_001953.5:c.1300+1G>A (TYMP) MANE Select | NP_001944.1:n.1300+1G>A | |
| NM_001169109.2:c.-14+246G>A (SCO2) | NP_001162580.1:n.-14+246G>A |