Linked Data
dbSNP Id:
rs763996830
ExAC:
3:48605157 G / A
gnomAD v2:
3-48605157-G-A
gnomAD v4:
3-48567724-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48567724G>A , CM000665.2:g.48567724G>A | GRCh38 |
| NC_000003.11:g.48605157G>A , CM000665.1:g.48605157G>A | GRCh37 |
| NC_000003.10:g.48580161G>A | NCBI36 |
| NG_007065.1:g.32529C>T , LRG_286:g.32529C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7969C>T MANE Select | ENSP00000506558.1:p.His2657Tyr | |
| ENST00000328333.12:c.7969C>T | ENSP00000332371.8:p.His2657Tyr | |
| ENST00000459756.5:n.792C>T | ||
| ENST00000487017.5:n.4608C>T | ||
| NM_000094.3:c.7969C>T , LRG_286t1:c.7969C>T | NP_000085.1:p.His2657Tyr | |
| XM_011533336.1:c.7996C>T | XP_011531638.1:p.His2666Tyr | |
| XM_011533337.1:c.7969C>T | XP_011531639.1:p.His2657Tyr | |
| XM_011533338.1:c.7936C>T | XP_011531640.1:p.His2646Tyr | |
| XR_940369.1:n.8032C>T | ||
| XR_940370.1:n.8032C>T | ||
| XR_940371.1:n.8032C>T | ||
| XM_017005688.1:c.7909C>T | XP_016861177.1:p.His2637Tyr | |
| XR_001740003.1:n.8005C>T | ||
| XR_001740004.1:n.8005C>T | ||
| XR_001740005.1:n.8005C>T | ||
| NM_000094.4:c.7969C>T MANE Select | NP_000085.1:p.His2657Tyr |