Linked Data
dbSNP Id:
rs1332117693
gnomAD v2:
9-32551076-T-G
gnomAD v3:
9-32551078-T-G
gnomAD v4:
9-32551078-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32551078T>G , CM000671.2:g.32551078T>G | GRCh38 |
| NC_000009.11:g.32551076T>G , CM000671.1:g.32551076T>G | GRCh37 |
| NC_000009.10:g.32541076T>G | NCBI36 |
| NG_017050.1:g.6547A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.4-110A>C (TOPORS) MANE Select | ENSP00000353735.2:n.4-110A>C | |
| ENST00000680198.1:c.4-110A>C | ENSP00000505143.1:n.4-110A>C | |
| ENST00000681750.1:c.-239-110A>C | ENSP00000506413.1:n.-239-110A>C | |
| ENST00000360538.6:c.4-110A>C (TOPORS) | ENSP00000353735.2:n.4-110A>C | |
| ENST00000379858.1:c.3+1356A>C (TOPORS) | ENSP00000369187.1:n.3+1356A>C | |
| NM_001195622.1:c.3+1356A>C (TOPORS) | NP_001182551.1:n.3+1356A>C | |
| NM_005802.4:c.4-110A>C (TOPORS) | NP_005793.2:n.4-110A>C | |
| XM_024447368.1:c.85T>G (SMIM27) | XP_024303136.1:p.Cys29Gly | |
| NM_005802.5:c.4-110A>C (TOPORS) MANE Select | NP_005793.2:n.4-110A>C | |
| NM_001195622.2:c.3+1356A>C (TOPORS) | NP_001182551.1:n.3+1356A>C |