Linked Data
ClinVar Variation Id:
1405577
ClinVar RCV Id:
RCV001903909
dbSNP Id:
rs745614639
ExAC:
3:121712089 G / A
gnomAD v2:
3-121712089-G-A
gnomAD v3:
3-121993242-G-A
gnomAD v4:
3-121993242-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121993242G>A , CM000665.2:g.121993242G>A | GRCh38 |
| NC_000003.11:g.121712089G>A , CM000665.1:g.121712089G>A | GRCh37 |
| NC_000003.10:g.123194779G>A | NCBI36 |
| NG_031870.1:g.34039C>T | |
| NG_031870.2:g.72313C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344209.10:c.1507C>T MANE Select | ENSP00000345667.5:p.His503Tyr | |
| ENST00000460554.2:n.1457C>T | ||
| ENST00000642615.1:c.*690C>T | ENSP00000495499.1:n.*690C>T | |
| ENST00000273691.7:c.1375C>T | ENSP00000273691.3:p.His459Tyr | |
| ENST00000344209.9:c.1507C>T | ENSP00000345667.5:p.His503Tyr | |
| ENST00000393631.5:c.1240C>T | ENSP00000377251.1:p.His414Tyr | |
| ENST00000460554.1:n.1609C>T | ||
| ENST00000462014.1:c.1411C>T | ENSP00000419414.1:p.His471Tyr | |
| NM_001199799.1:c.1507C>T | NP_001186728.1:p.His503Tyr | |
| NM_001199800.1:c.1240C>T | NP_001186729.1:p.His414Tyr | |
| NM_175924.3:c.1375C>T | NP_787120.1:p.His459Tyr | |
| XM_005247389.3:c.1411C>T | XP_005247446.1:p.His471Tyr | |
| XM_011512738.1:c.1507C>T | XP_011511040.1:p.His503Tyr | |
| XM_011512739.1:c.970C>T | XP_011511041.1:p.His324Tyr | |
| XM_005247389.4:c.1411C>T | XP_005247446.1:p.His471Tyr | |
| XM_011512738.2:c.1507C>T | XP_011511040.1:p.His503Tyr | |
| XM_011512739.2:c.970C>T | XP_011511041.1:p.His324Tyr | |
| NM_001199799.2:c.1507C>T MANE Select | NP_001186728.1:p.His503Tyr | |
| NM_001199800.2:c.1240C>T | NP_001186729.1:p.His414Tyr | |
| NM_175924.4:c.1375C>T | NP_787120.1:p.His459Tyr |