Linked Data
ClinVar Variation Id:
128843
dbSNP Id:
rs34386552
ExAC:
3:148930310 G / A
gnomAD v2:
3-148930310-G-A
gnomAD v3:
3-149212523-G-A
gnomAD v4:
3-149212523-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149212523G>A , CM000665.2:g.149212523G>A | GRCh38 |
| NC_000003.11:g.148930310G>A , CM000665.1:g.148930310G>A | GRCh37 |
| NC_000003.10:g.150413000G>A | NCBI36 |
| NG_011800.1:g.14523C>T | |
| NG_011800.2:g.14523C>T | |
| NG_011800.3:g.14523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.322C>T MANE Select | ENSP00000264613.6:p.His108Tyr | |
| ENST00000264613.10:c.322C>T | ENSP00000264613.6:p.His108Tyr | |
| ENST00000455472.3:c.442C>T | ENSP00000426888.1:p.His148Tyr | |
| ENST00000481169.5:c.322C>T | ENSP00000418773.1:p.His108Tyr | |
| ENST00000490639.5:n.354C>T | ||
| NM_000096.3:c.322C>T | NP_000087.1:p.His108Tyr | |
| NR_046371.1:n.575C>T | ||
| XM_006713499.2:c.322C>T | XP_006713562.1:p.His108Tyr | |
| XM_006713500.2:c.322C>T | XP_006713563.1:p.His108Tyr | |
| XM_006713501.2:c.322C>T | XP_006713564.1:p.His108Tyr | |
| XM_006713502.2:c.322C>T | XP_006713565.1:p.His108Tyr | |
| XM_011512435.1:c.322C>T | XP_011510737.1:p.His108Tyr | |
| XR_427361.2:n.580C>T | ||
| XM_006713499.3:c.322C>T | XP_006713562.1:p.His108Tyr | |
| XM_006713500.4:c.322C>T | XP_006713563.1:p.His108Tyr | |
| XM_006713501.3:c.322C>T | XP_006713564.1:p.His108Tyr | |
| XM_011512435.2:c.322C>T | XP_011510737.1:p.His108Tyr | |
| XM_017005734.2:c.322C>T | XP_016861223.1:p.His108Tyr | |
| XM_017005735.2:c.322C>T | XP_016861224.1:p.His108Tyr | |
| XR_427361.3:n.538C>T | ||
| NM_000096.4:c.322C>T MANE Select | NP_000087.2:p.His108Tyr | |
| NR_046371.2:n.359C>T |