Linked Data
gnomAD v4:
13-48037788-C-T
COSMIC:
COSM5726683
MyVariant Identifiers:
chr13:g.48611924C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48037788C>T , CM000675.2:g.48037788C>T | GRCh38 |
| NC_000013.10:g.48611924C>T , CM000675.1:g.48611924C>T | GRCh37 |
| NC_000013.9:g.47509925C>T | NCBI36 |
| NG_047021.1:g.5222C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.42C>T (NUDT15) MANE Select | ENSP00000258662.1:p.Val14= | |
| ENST00000643246.1:c.-345G>A (SUCLA2) | ENSP00000496235.1:n.-345G>A | |
| ENST00000646804.1:c.-267G>A (SUCLA2) | ENSP00000493977.1:n.-267G>A | |
| ENST00000258662.2:c.42C>T (NUDT15) | ENSP00000258662.1:p.Val14= | |
| NM_001304745.1:c.42C>T (NUDT15) | NP_001291674.1:p.Val14= | |
| NM_018283.2:c.42C>T (NUDT15) | NP_060753.1:p.Val14= | |
| NM_018283.3:c.42C>T (NUDT15) | NP_060753.1:p.Val14= | |
| NR_136687.1:n.222C>T (NUDT15) | ||
| NR_136688.1:n.222C>T (NUDT15) | ||
| NM_018283.4:c.42C>T (NUDT15) MANE Select | NP_060753.1:p.Val14= | |
| NM_001304745.2:c.42C>T (NUDT15) | NP_001291674.1:p.Val14= | |
| NR_136687.2:n.63C>T (NUDT15) | ||
| NR_136688.2:n.63C>T (NUDT15) |