COSMIC:
COSN25680110 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.471254 (AMR)
Genomes Max Group AF
0.4978332 (NFE)
Exomes Max Group AF
0.42234628 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.657685G>C , CM000680.2:g.657685G>C | GRCh38 |
| NC_000018.9:g.657685G>C , CM000680.1:g.657685G>C | GRCh37 |
| NC_000018.8:g.647685G>C | NCBI36 |
| NG_028255.1:g.5082G>C , LRG_783:g.5082G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323274.15:c.-58G>C (TYMS) MANE Select | ENSP00000315644.10:n.-58G>C | |
| ENST00000323274.14:c.-58G>C (TYMS) | ENSP00000315644.10:n.-58G>C | |
| ENST00000579128.1:n.21G>C (TYMS) | ||
| NM_001012716.2:c.*34+157C>G (TYMSOS) | NP_001012734.2:n.*34+157C>G | |
| NM_001071.2:c.-58G>C , LRG_783t1:c.-58G>C (TYMS) | NP_001062.1:n.-58G>C | |
| NM_001071.3:c.-58G>C (TYMS) | NP_001062.1:n.-58G>C | |
| NM_001354867.1:c.-58G>C (TYMS) | NP_001341796.1:n.-58G>C | |
| NM_001354868.1:c.-58G>C (TYMS) | NP_001341797.1:n.-58G>C | |
| NM_001071.4:c.-58G>C (TYMS) MANE Select | NP_001062.1:n.-58G>C | |
| NM_001012716.3:c.*34+157C>G (TYMSOS) | NP_001012734.2:n.*34+157C>G | |
| NM_001354867.2:c.-58G>C (TYMS) | NP_001341796.1:n.-58G>C | |
| NM_001354868.2:c.-58G>C (TYMS) | NP_001341797.1:n.-58G>C | |
| NR_171001.1:n.450+157C>G (TYMSOS) |