Linked Data
dbSNP Id:
rs1559800104
gnomAD v4:
3-120670508-T-A
MyVariant Identifiers:
chr3:g.120389355T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670508T>A , CM000665.2:g.120670508T>A | GRCh38 |
| NC_000003.11:g.120389355T>A , CM000665.1:g.120389355T>A | GRCh37 |
| NC_000003.10:g.121872045T>A | NCBI36 |
| NG_011957.1:g.16974A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.201A>T MANE Select | ENSP00000283871.5:p.Ser67= | |
| ENST00000283871.9:c.201A>T | ENSP00000283871.5:p.Ser67= | |
| ENST00000466528.5:n.227A>T | ||
| ENST00000476082.2:c.78A>T | ENSP00000419560.2:p.Ser26= | |
| ENST00000485313.5:n.309A>T | ||
| ENST00000488183.5:n.459A>T | ||
| NM_000187.3:c.201A>T | NP_000178.2:p.Ser67= | |
| XM_005247412.1:c.201A>T | XP_005247469.1:p.Ser67= | |
| XM_005247413.1:c.201A>T | XP_005247470.1:p.Ser67= | |
| XM_005247414.3:c.201A>T | XP_005247471.1:p.Ser67= | |
| XM_011512746.1:c.201A>T | XP_011511048.1:p.Ser67= | |
| XM_005247412.2:c.201A>T | XP_005247469.1:p.Ser67= | |
| XM_005247413.2:c.201A>T | XP_005247470.1:p.Ser67= | |
| XM_005247414.5:c.201A>T | XP_005247471.1:p.Ser67= | |
| XM_011512746.2:c.201A>T | XP_011511048.1:p.Ser67= | |
| XM_017006277.2:c.-223A>T | XP_016861766.1:n.-223A>T | |
| NM_000187.4:c.201A>T MANE Select | NP_000178.2:p.Ser67= |