Linked Data
dbSNP Id:
rs1181210307
gnomAD v2:
1-45806163-A-C
gnomAD v3:
1-45340491-A-C
gnomAD v4:
1-45340491-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45340491A>C , CM000663.2:g.45340491A>C | GRCh38 |
| NC_000001.10:g.45806163A>C , CM000663.1:g.45806163A>C | GRCh37 |
| NC_000001.9:g.45578750A>C | NCBI36 |
| NG_008189.1:g.4980T>G , LRG_220:g.4980T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372090.6:c.52+187A>C (TOE1) MANE Select | ENSP00000361162.5:n.52+187A>C | |
| ENST00000671898.1:c.541-5980T>G | ENSP00000499896.1:n.541-5980T>G | |
| ENST00000672011.1:c.-237T>G (MUTYH) | ENSP00000500418.1:n.-237T>G | |
| ENST00000372090.5:c.52+187A>C (TOE1) | ENSP00000361162.5:n.52+187A>C | |
| ENST00000471337.5:n.130+187A>C (TOE1) | ||
| ENST00000477731.5:n.271+169A>C (TOE1) | ||
| ENST00000495703.5:n.271A>C (TOE1) | ||
| NM_025077.3:c.52+187A>C (TOE1) | NP_079353.3:n.52+187A>C | |
| XM_005270412.2:c.70+169A>C (TOE1) | XP_005270469.1:n.70+169A>C | |
| XM_005270413.3:c.-138A>C (TOE1) | XP_005270470.1:n.-138A>C | |
| XM_011540569.1:c.-233+187A>C (TOE1) | XP_011538871.1:n.-233+187A>C | |
| XR_246230.2:n.329+187A>C (TOE1) | ||
| XR_426587.2:n.149+169A>C (TOE1) | ||
| XR_946532.1:n.149+169A>C (TOE1) | ||
| XM_005270412.4:c.70+169A>C (TOE1) | XP_005270469.1:n.70+169A>C | |
| XM_005270413.5:c.-138A>C (TOE1) | XP_005270470.1:n.-138A>C | |
| XM_011540569.3:c.-233+187A>C (TOE1) | XP_011538871.1:n.-233+187A>C | |
| XM_024452837.1:c.-138A>C (TOE1) | XP_024308605.1:n.-138A>C | |
| XR_001736951.2:n.239+187A>C (TOE1) | ||
| XR_002959287.1:n.554+187A>C (TOE1) | ||
| XR_246230.4:n.239+187A>C (TOE1) | ||
| XR_426587.4:n.149+169A>C (TOE1) | ||
| XR_946532.3:n.149+169A>C (TOE1) | ||
| NM_025077.4:c.52+187A>C (TOE1) MANE Select | NP_079353.3:n.52+187A>C |