COSMIC:
COSM3756198 (not active)
Revel Score:
ENST00000323813
0.094
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51481342 (EAS)
Genomes Max Group AF
0.51213826 (EAS)
Exomes Max Group AF
0.51331446 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.658064G>C , CM000680.2:g.658064G>C | GRCh38 |
| NC_000018.9:g.658064G>C , CM000680.1:g.658064G>C | GRCh37 |
| NC_000018.8:g.648064G>C | NCBI36 |
| NG_028255.1:g.5461G>C , LRG_783:g.5461G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323274.15:c.205+117G>C (TYMS) MANE Select | ENSP00000315644.10:n.205+117G>C | |
| ENST00000323224.7:c.205+117G>C (TYMS) | ENSP00000314727.7:n.205+117G>C | |
| ENST00000323250.9:c.205+117G>C (TYMS) | ENSP00000314902.5:n.205+117G>C | |
| ENST00000323274.14:c.205+117G>C (TYMS) | ENSP00000315644.10:n.205+117G>C | |
| ENST00000579128.1:n.283+117G>C (TYMS) | ||
| NM_001012716.2:c.184C>G (TYMSOS) | NP_001012734.2:p.Arg62Gly | |
| NM_001071.2:c.205+117G>C , LRG_783t1:c.205+117G>C (TYMS) | NP_001062.1:n.205+117G>C | |
| NM_001071.3:c.205+117G>C (TYMS) | NP_001062.1:n.205+117G>C | |
| NM_001354867.1:c.205+117G>C (TYMS) | NP_001341796.1:n.205+117G>C | |
| NM_001354868.1:c.205+117G>C (TYMS) | NP_001341797.1:n.205+117G>C | |
| NM_001071.4:c.205+117G>C (TYMS) MANE Select | NP_001062.1:n.205+117G>C | |
| NM_001012716.3:c.184C>G (TYMSOS) | NP_001012734.2:p.Arg62Gly | |
| NM_001354867.2:c.205+117G>C (TYMS) | NP_001341796.1:n.205+117G>C | |
| NM_001354868.2:c.205+117G>C (TYMS) | NP_001341797.1:n.205+117G>C | |
| NR_171001.1:n.228C>G (TYMSOS) |