Linked Data
dbSNP Id:
rs1270034823
gnomAD v2:
9-32551101-G-T
gnomAD v3:
9-32551103-G-T
gnomAD v4:
9-32551103-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32551103G>T , CM000671.2:g.32551103G>T | GRCh38 |
| NC_000009.11:g.32551101G>T , CM000671.1:g.32551101G>T | GRCh37 |
| NC_000009.10:g.32541101G>T | NCBI36 |
| NG_017050.1:g.6522C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.4-135C>A (TOPORS) MANE Select | ENSP00000353735.2:n.4-135C>A | |
| ENST00000680198.1:c.4-135C>A | ENSP00000505143.1:n.4-135C>A | |
| ENST00000681750.1:c.-239-135C>A | ENSP00000506413.1:n.-239-135C>A | |
| ENST00000360538.6:c.4-135C>A (TOPORS) | ENSP00000353735.2:n.4-135C>A | |
| ENST00000379858.1:c.3+1331C>A (TOPORS) | ENSP00000369187.1:n.3+1331C>A | |
| NM_001195622.1:c.3+1331C>A (TOPORS) | NP_001182551.1:n.3+1331C>A | |
| NM_005802.4:c.4-135C>A (TOPORS) | NP_005793.2:n.4-135C>A | |
| XM_024447368.1:c.110G>T (SMIM27) | XP_024303136.1:p.Arg37Leu | |
| NM_005802.5:c.4-135C>A (TOPORS) MANE Select | NP_005793.2:n.4-135C>A | |
| NM_001195622.2:c.3+1331C>A (TOPORS) | NP_001182551.1:n.3+1331C>A |