Linked Data
ClinVar Variation Id:
289200
dbSNP Id:
rs757927270
ExAC:
9:103059246 T / A
gnomAD v2:
9-103059246-T-A
gnomAD v3:
9-100296964-T-A
gnomAD v4:
9-100296964-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.100296964T>A , CM000671.2:g.100296964T>A | GRCh38 |
| NC_000009.11:g.103059246T>A , CM000671.1:g.103059246T>A | GRCh37 |
| NC_000009.10:g.102099067T>A | NCBI36 |
| NG_008316.1:g.202736T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262457.7:c.2834T>A MANE Select | ENSP00000262457.2:p.Leu945His | |
| ENST00000262456.6:c.2324T>A | ENSP00000262456.2:p.Leu775His | |
| ENST00000262457.6:c.2834T>A | ENSP00000262457.2:p.Leu945His | |
| NM_014425.3:c.2834T>A | NP_055240.2:p.Leu945His | |
| NM_183245.2:c.2324T>A | NP_899068.1:p.Leu775His | |
| NR_051962.1:n.3143T>A | ||
| XM_005251923.3:c.2834T>A | XP_005251980.1:p.Leu945His | |
| XM_005251924.3:c.2546T>A | XP_005251981.1:p.Leu849His | |
| XM_011518531.1:c.2834T>A | XP_011516833.1:p.Leu945His | |
| XM_011518532.1:c.2834T>A | XP_011516834.1:p.Leu945His | |
| XM_011518533.1:c.2834T>A | XP_011516835.1:p.Leu945His | |
| XM_011518534.1:c.2546T>A | XP_011516836.1:p.Leu849His | |
| XM_011518535.1:c.2546T>A | XP_011516837.1:p.Leu849His | |
| XM_011518536.1:c.2546T>A | XP_011516838.1:p.Leu849His | |
| XM_011518537.1:c.2546T>A | XP_011516839.1:p.Leu849His | |
| XM_011518538.1:c.2546T>A | XP_011516840.1:p.Leu849His | |
| XM_011518539.1:c.2513T>A | XP_011516841.1:p.Leu838His | |
| XM_011518540.1:c.2513T>A | XP_011516842.1:p.Leu838His | |
| XM_011518541.1:c.2513T>A | XP_011516843.1:p.Leu838His | |
| XM_011518542.1:c.2036T>A | XP_011516844.1:p.Leu679His | |
| XM_011518543.1:c.1856T>A | XP_011516845.1:p.Leu619His | |
| XM_011518544.1:c.1856T>A | XP_011516846.1:p.Leu619His | |
| XR_242585.1:n.3017T>A | ||
| XR_242586.1:n.3041T>A | ||
| XR_428522.1:n.2531T>A | ||
| NM_001318381.1:c.2546T>A | NP_001305310.1:p.Leu849His | |
| NM_001318382.1:c.1856T>A | NP_001305311.1:p.Leu619His | |
| NM_014425.4:c.2834T>A | NP_055240.2:p.Leu945His | |
| NR_134606.1:n.3041T>A | ||
| NM_014425.5:c.2834T>A MANE Select | NP_055240.2:p.Leu945His | |
| NM_001318381.2:c.2546T>A | NP_001305310.1:p.Leu849His | |
| NM_001318382.2:c.1856T>A | NP_001305311.1:p.Leu619His | |
| NR_134606.2:n.2983T>A |