Linked Data
dbSNP Id:
rs1302189101
gnomAD v2:
3-120389309-G-A
gnomAD v3:
3-120670462-G-A
gnomAD v4:
3-120670462-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670462G>A , CM000665.2:g.120670462G>A | GRCh38 |
| NC_000003.11:g.120389309G>A , CM000665.1:g.120389309G>A | GRCh37 |
| NC_000003.10:g.121871999G>A | NCBI36 |
| NG_011957.1:g.17020C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.247C>T MANE Select | ENSP00000283871.5:p.His83Tyr | |
| ENST00000283871.9:c.247C>T | ENSP00000283871.5:p.His83Tyr | |
| ENST00000466528.5:n.273C>T | ||
| ENST00000476082.2:c.124C>T | ENSP00000419560.2:p.His42Tyr | |
| ENST00000485313.5:n.355C>T | ||
| ENST00000488183.5:n.505C>T | ||
| NM_000187.3:c.247C>T | NP_000178.2:p.His83Tyr | |
| XM_005247412.1:c.247C>T | XP_005247469.1:p.His83Tyr | |
| XM_005247413.1:c.247C>T | XP_005247470.1:p.His83Tyr | |
| XM_005247414.3:c.247C>T | XP_005247471.1:p.His83Tyr | |
| XM_011512746.1:c.247C>T | XP_011511048.1:p.His83Tyr | |
| XM_005247412.2:c.247C>T | XP_005247469.1:p.His83Tyr | |
| XM_005247413.2:c.247C>T | XP_005247470.1:p.His83Tyr | |
| XM_005247414.5:c.247C>T | XP_005247471.1:p.His83Tyr | |
| XM_011512746.2:c.247C>T | XP_011511048.1:p.His83Tyr | |
| XM_017006277.2:c.-177C>T | XP_016861766.1:n.-177C>T | |
| NM_000187.4:c.247C>T MANE Select | NP_000178.2:p.His83Tyr |