Linked Data
ClinVar Variation Id:
1579017
ClinVar RCV Id:
RCV002083822
dbSNP Id:
rs2107548724
gnomAD v4:
3-120670481-A-G
MyVariant Identifiers:
chr3:g.120389328A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670481A>G , CM000665.2:g.120670481A>G | GRCh38 |
| NC_000003.11:g.120389328A>G , CM000665.1:g.120389328A>G | GRCh37 |
| NC_000003.10:g.121872018A>G | NCBI36 |
| NG_011957.1:g.17001T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.228T>C MANE Select | ENSP00000283871.5:p.Ile76= | |
| ENST00000283871.9:c.228T>C | ENSP00000283871.5:p.Ile76= | |
| ENST00000466528.5:n.254T>C | ||
| ENST00000476082.2:c.105T>C | ENSP00000419560.2:p.Ile35= | |
| ENST00000485313.5:n.336T>C | ||
| ENST00000488183.5:n.486T>C | ||
| NM_000187.3:c.228T>C | NP_000178.2:p.Ile76= | |
| XM_005247412.1:c.228T>C | XP_005247469.1:p.Ile76= | |
| XM_005247413.1:c.228T>C | XP_005247470.1:p.Ile76= | |
| XM_005247414.3:c.228T>C | XP_005247471.1:p.Ile76= | |
| XM_011512746.1:c.228T>C | XP_011511048.1:p.Ile76= | |
| XM_005247412.2:c.228T>C | XP_005247469.1:p.Ile76= | |
| XM_005247413.2:c.228T>C | XP_005247470.1:p.Ile76= | |
| XM_005247414.5:c.228T>C | XP_005247471.1:p.Ile76= | |
| XM_011512746.2:c.228T>C | XP_011511048.1:p.Ile76= | |
| XM_017006277.2:c.-196T>C | XP_016861766.1:n.-196T>C | |
| NM_000187.4:c.228T>C MANE Select | NP_000178.2:p.Ile76= |