Linked Data
ClinVar Variation Id:
575311
dbSNP Id:
rs376251309
ExAC:
4:3491503 C / T
gnomAD v2:
4-3491503-C-T
gnomAD v3:
4-3489776-C-T
gnomAD v4:
4-3489776-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3489776C>T , CM000666.2:g.3489776C>T | GRCh38 |
| NC_000004.11:g.3491503C>T , CM000666.1:g.3491503C>T | GRCh37 |
| NC_000004.10:g.3461301C>T | NCBI36 |
| NG_013072.2:g.31471C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340083.6:c.752C>T MANE Select | ENSP00000344432.5:p.Ala251Val | |
| ENST00000643608.1:c.320C>T | ENSP00000495701.1:p.Ala107Val | |
| ENST00000340083.5:c.752C>T | ENSP00000344432.5:p.Ala251Val | |
| ENST00000503688.5:n.385C>T | ||
| ENST00000507039.5:c.741C>T | ENSP00000423614.1:p.Cys247= | |
| ENST00000513995.1:n.410C>T | ||
| ENST00000515886.5:n.520C>T | ||
| NM_001164673.1:c.741C>T | NP_001158145.1:p.Cys247= | |
| NM_001256896.1:c.-179C>T | NP_001243825.1:n.-179C>T | |
| NM_001301071.1:c.752C>T | NP_001288000.1:p.Ala251Val | |
| NM_173660.4:c.752C>T | NP_775931.3:p.Ala251Val | |
| XM_011513435.1:c.752C>T | XP_011511737.1:p.Ala251Val | |
| XM_011513436.1:c.752C>T | XP_011511738.1:p.Ala251Val | |
| XM_011513437.1:c.338C>T | XP_011511739.1:p.Ala113Val | |
| NM_001363811.1:c.320C>T | NP_001350740.1:p.Ala107Val | |
| XM_011513435.2:c.752C>T | XP_011511737.1:p.Ala251Val | |
| XM_011513437.2:c.338C>T | XP_011511739.1:p.Ala113Val | |
| NM_173660.5:c.752C>T MANE Select | NP_775931.3:p.Ala251Val | |
| NM_001164673.2:c.741C>T | NP_001158145.1:p.Cys247= | |
| NM_001301071.2:c.752C>T | NP_001288000.1:p.Ala251Val | |
| NM_001363811.2:c.320C>T | NP_001350740.1:p.Ala107Val | |
| NM_001256896.2:c.-179C>T | NP_001243825.1:n.-179C>T |