Linked Data
dbSNP Id:
rs1370261243
gnomAD v2:
9-32550991-A-C
gnomAD v3:
9-32550993-A-C
gnomAD v4:
9-32550993-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32550993A>C , CM000671.2:g.32550993A>C | GRCh38 |
| NC_000009.11:g.32550991A>C , CM000671.1:g.32550991A>C | GRCh37 |
| NC_000009.10:g.32540991A>C | NCBI36 |
| NG_017050.1:g.6632T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.4-25T>G (TOPORS) MANE Select | ENSP00000353735.2:n.4-25T>G | |
| ENST00000680198.1:c.4-25T>G | ENSP00000505143.1:n.4-25T>G | |
| ENST00000681750.1:c.-239-25T>G | ENSP00000506413.1:n.-239-25T>G | |
| ENST00000360538.6:c.4-25T>G (TOPORS) | ENSP00000353735.2:n.4-25T>G | |
| ENST00000379858.1:c.3+1441T>G (TOPORS) | ENSP00000369187.1:n.3+1441T>G | |
| NM_001195622.1:c.3+1441T>G (TOPORS) | NP_001182551.1:n.3+1441T>G | |
| NM_005802.4:c.4-25T>G (TOPORS) | NP_005793.2:n.4-25T>G | |
| XM_024447368.1:c.-1A>C (SMIM27) | XP_024303136.1:n.-1A>C | |
| NM_005802.5:c.4-25T>G (TOPORS) MANE Select | NP_005793.2:n.4-25T>G | |
| NM_001195622.2:c.3+1441T>G (TOPORS) | NP_001182551.1:n.3+1441T>G |