Linked Data
ClinVar Variation Id:
342744
ClinVar RCV Id:
RCV000387482
dbSNP Id:
rs747764475
ExAC:
3:120363175 A / G
gnomAD v2:
3-120363175-A-G
gnomAD v3:
3-120644328-A-G
gnomAD v4:
3-120644328-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120644328A>G , CM000665.2:g.120644328A>G | GRCh38 |
| NC_000003.11:g.120363175A>G , CM000665.1:g.120363175A>G | GRCh37 |
| NC_000003.10:g.121845865A>G | NCBI36 |
| NG_011957.1:g.43154T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.765T>C MANE Select | ENSP00000283871.5:p.Ala255= | |
| ENST00000283871.9:c.765T>C | ENSP00000283871.5:p.Ala255= | |
| ENST00000475447.2:c.202+270T>C | ||
| ENST00000492108.5:c.181-2635T>C | ENSP00000419838.1:n.181-2635T>C | |
| ENST00000494453.1:c.185T>C | ||
| NM_000187.3:c.765T>C | NP_000178.2:p.Ala255= | |
| XM_005247412.1:c.550-2635T>C | XP_005247469.1:n.550-2635T>C | |
| XM_005247413.1:c.765T>C | XP_005247470.1:p.Ala255= | |
| XM_011512746.1:c.765T>C | XP_011511048.1:p.Ala255= | |
| XM_005247412.2:c.550-2635T>C | XP_005247469.1:n.550-2635T>C | |
| XM_005247413.2:c.765T>C | XP_005247470.1:p.Ala255= | |
| XM_005247414.5:c.*239T>C | XP_005247471.1:n.*239T>C | |
| XM_011512746.2:c.765T>C | XP_011511048.1:p.Ala255= | |
| XM_017006277.2:c.342T>C | XP_016861766.1:p.Ala114= | |
| NM_000187.4:c.765T>C MANE Select | NP_000178.2:p.Ala255= |