Linked Data
ClinVar Variation Id:
338026
dbSNP Id:
rs139159095
ExAC:
20:2644177 G / A
gnomAD v2:
20-2644177-G-A
gnomAD v3:
20-2663531-G-A
gnomAD v4:
20-2663531-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2663531G>A , CM000682.2:g.2663531G>A | GRCh38 |
| NC_000020.10:g.2644177G>A , CM000682.1:g.2644177G>A | GRCh37 |
| NC_000020.9:g.2592177G>A | NCBI36 |
| NG_012149.1:g.5667C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380843.9:c.252C>T MANE Select | ENSP00000370223.4:p.His84= | |
| ENST00000380843.8:c.252C>T | ENSP00000370223.4:p.His84= | |
| ENST00000380851.9:c.252C>T | ENSP00000370232.5:p.His84= | |
| ENST00000462967.5:n.279C>T | ||
| ENST00000474315.5:c.252C>T | ENSP00000482773.1:p.His84= | |
| ENST00000488299.5:n.252C>T | ||
| ENST00000491065.1:n.273C>T | ||
| ENST00000613370.1:c.252C>T | ENSP00000484922.1:p.His84= | |
| NM_001258384.1:c.252C>T | NP_001245313.1:p.His84= | |
| NM_006899.3:c.252C>T | NP_008830.2:p.His84= | |
| NM_174855.2:c.252C>T | NP_777280.1:p.His84= | |
| XM_005260716.1:c.252C>T | XP_005260773.1:p.His84= | |
| XR_937066.1:n.280C>T | ||
| NM_001258384.2:c.252C>T | NP_001245313.1:p.His84= | |
| NM_001330763.1:c.252C>T | NP_001317692.1:p.His84= | |
| NM_006899.4:c.252C>T | NP_008830.2:p.His84= | |
| NM_174855.3:c.252C>T | NP_777280.1:p.His84= | |
| NR_136344.1:n.287C>T | ||
| XR_001754265.1:n.280C>T | ||
| XR_001754266.1:n.280C>T | ||
| XR_001754267.1:n.280C>T | ||
| NM_006899.5:c.252C>T MANE Select | NP_008830.2:p.His84= | |
| NM_001330763.2:c.252C>T | NP_001317692.1:p.His84= | |
| NM_174855.4:c.252C>T | NP_777280.1:p.His84= | |
| NR_136344.2:n.280C>T | ||
| NM_001258384.3:c.252C>T | NP_001245313.1:p.His84= |