Linked Data
ClinVar Variation Id:
407400
dbSNP Id:
rs770950644
ExAC:
4:55140790 C / A
gnomAD v2:
4-55140790-C-A
gnomAD v4:
4-54274623-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54274623C>A , CM000666.2:g.54274623C>A | GRCh38 |
| NC_000004.11:g.55140790C>A , CM000666.1:g.55140790C>A | GRCh37 |
| NC_000004.10:g.54835547C>A | NCBI36 |
| NG_009250.1:g.50527C>A , LRG_309:g.50527C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257290.10:c.1651C>A MANE Select | ENSP00000257290.5:p.Gln551Lys | |
| ENST00000257290.9:c.1651C>A | ENSP00000257290.5:p.Gln551Lys | |
| ENST00000507166.5:c.1018-302C>A | ENSP00000423325.1:n.1018-302C>A | |
| ENST00000509092.5:n.1469C>A | ||
| ENST00000509490.5:c.1651C>A | ENSP00000424218.1:p.Gln551Lys | |
| NM_006206.4:c.1651C>A , LRG_309t1:c.1651C>A | NP_006197.1:p.Gln551Lys | |
| XM_005265743.1:c.1651C>A | XP_005265800.1:p.Gln551Lys | |
| XM_006714039.2:c.1726C>A | XP_006714102.1:p.Gln576Lys | |
| XM_006714041.2:c.1726C>A | XP_006714104.1:p.Gln576Lys | |
| XM_011534385.1:c.1651C>A | XP_011532687.1:p.Gln551Lys | |
| XM_011534386.1:c.1651C>A | XP_011532688.1:p.Gln551Lys | |
| NM_001347827.1:c.1651C>A | NP_001334756.1:p.Gln551Lys | |
| NM_001347828.1:c.1726C>A | NP_001334757.1:p.Gln576Lys | |
| NM_001347829.1:c.1651C>A | NP_001334758.1:p.Gln551Lys | |
| NM_001347830.1:c.1690C>A | NP_001334759.1:p.Gln564Lys | |
| NM_006206.5:c.1651C>A | NP_006197.1:p.Gln551Lys | |
| XM_006714041.3:c.1726C>A | XP_006714104.1:p.Gln576Lys | |
| XM_017008281.1:c.1690C>A | XP_016863770.1:p.Gln564Lys | |
| NM_006206.6:c.1651C>A MANE Select | NP_006197.1:p.Gln551Lys | |
| NM_001347827.2:c.1651C>A | NP_001334756.1:p.Gln551Lys | |
| NM_001347828.2:c.1726C>A | NP_001334757.1:p.Gln576Lys | |
| NM_001347829.2:c.1651C>A | NP_001334758.1:p.Gln551Lys | |
| NM_001347830.2:c.1690C>A | NP_001334759.1:p.Gln564Lys |