Linked Data
dbSNP Id:
rs376302243
gnomAD v2:
9-32551167-G-A
gnomAD v3:
9-32551169-G-A
gnomAD v4:
9-32551169-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32551169G>A , CM000671.2:g.32551169G>A | GRCh38 |
| NC_000009.11:g.32551167G>A , CM000671.1:g.32551167G>A | GRCh37 |
| NC_000009.10:g.32541167G>A | NCBI36 |
| NG_017050.1:g.6456C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.4-201C>T (TOPORS) MANE Select | ENSP00000353735.2:n.4-201C>T | |
| ENST00000453396.5:n.26G>A (SMIM27) | ||
| ENST00000680198.1:c.4-201C>T | ENSP00000505143.1:n.4-201C>T | |
| ENST00000681750.1:c.-240+196C>T | ENSP00000506413.1:n.-240+196C>T | |
| ENST00000360538.6:c.4-201C>T (TOPORS) | ENSP00000353735.2:n.4-201C>T | |
| ENST00000379858.1:c.3+1265C>T (TOPORS) | ENSP00000369187.1:n.3+1265C>T | |
| NM_001195622.1:c.3+1265C>T (TOPORS) | NP_001182551.1:n.3+1265C>T | |
| NM_005802.4:c.4-201C>T (TOPORS) | NP_005793.2:n.4-201C>T | |
| NR_033991.1:n.26G>A (SMIM27) | ||
| NM_001349118.1:c.-726G>A (SMIM27) | NP_001336047.1:n.-726G>A | |
| XM_024447368.1:c.176G>A (SMIM27) | XP_024303136.1:p.Gly59Glu | |
| NM_005802.5:c.4-201C>T (TOPORS) MANE Select | NP_005793.2:n.4-201C>T | |
| NM_001195622.2:c.3+1265C>T (TOPORS) | NP_001182551.1:n.3+1265C>T |