Linked Data
dbSNP Id:
rs775113388
ExAC:
3:120389378 A / G
gnomAD v2:
3-120389378-A-G
gnomAD v4:
3-120670531-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670531A>G , CM000665.2:g.120670531A>G | GRCh38 |
| NC_000003.11:g.120389378A>G , CM000665.1:g.120389378A>G | GRCh37 |
| NC_000003.10:g.121872068A>G | NCBI36 |
| NG_011957.1:g.16951T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.178T>C MANE Select | ENSP00000283871.5:p.Trp60Arg | |
| ENST00000283871.9:c.178T>C | ENSP00000283871.5:p.Trp60Arg | |
| ENST00000466528.5:n.204T>C | ||
| ENST00000476082.2:c.55T>C | ENSP00000419560.2:p.Trp19Arg | |
| ENST00000485313.5:n.286T>C | ||
| ENST00000488183.5:n.436T>C | ||
| NM_000187.3:c.178T>C | NP_000178.2:p.Trp60Arg | |
| XM_005247412.1:c.178T>C | XP_005247469.1:p.Trp60Arg | |
| XM_005247413.1:c.178T>C | XP_005247470.1:p.Trp60Arg | |
| XM_005247414.3:c.178T>C | XP_005247471.1:p.Trp60Arg | |
| XM_011512746.1:c.178T>C | XP_011511048.1:p.Trp60Arg | |
| XM_005247412.2:c.178T>C | XP_005247469.1:p.Trp60Arg | |
| XM_005247413.2:c.178T>C | XP_005247470.1:p.Trp60Arg | |
| XM_005247414.5:c.178T>C | XP_005247471.1:p.Trp60Arg | |
| XM_011512746.2:c.178T>C | XP_011511048.1:p.Trp60Arg | |
| XM_017006277.2:c.-246T>C | XP_016861766.1:n.-246T>C | |
| NM_000187.4:c.178T>C MANE Select | NP_000178.2:p.Trp60Arg |