Linked Data
ClinVar Variation Id:
227397
dbSNP Id:
rs876657472
gnomAD v2:
5-90119303-C-A
gnomAD v3:
5-90823486-C-A
gnomAD v4:
5-90823486-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823486C>A , CM000667.2:g.90823486C>A | GRCh38 |
| NC_000005.9:g.90119303C>A , CM000667.1:g.90119303C>A | GRCh37 |
| NC_000005.8:g.90155059C>A | NCBI36 |
| NG_007083.1:g.269687C>A | |
| NG_007083.2:g.299143C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16258C>A MANE Select | ENSP00000384582.2:p.Gln5420Lys | |
| ENST00000425867.3:c.5212C>A | ENSP00000392618.3:p.Gln1738Lys | |
| ENST00000638510.1:n.3525C>A | ||
| ENST00000639431.1:c.265+147277C>A | ENSP00000491057.1:n.265+147277C>A | |
| ENST00000640061.1:n.128+1304C>A | ||
| ENST00000640407.1:c.2668C>A | ENSP00000491425.1:p.Gln890Lys | |
| ENST00000405460.6:c.16258C>A | ENSP00000384582.2:p.Gln5420Lys | |
| ENST00000425867.2:c.3241C>A | ENSP00000392618.2:p.Gln1081Lys | |
| NM_032119.3:c.16258C>A | NP_115495.3:p.Gln5420Lys | |
| NR_003149.1:n.16271C>A | ||
| XM_011543675.1:c.16255C>A | XP_011541977.1:p.Gln5419Lys | |
| XM_011543676.1:c.16177C>A | XP_011541978.1:p.Gln5393Lys | |
| XM_011543677.1:c.13561C>A | XP_011541979.1:p.Gln4521Lys | |
| NM_032119.4:c.16258C>A MANE Select | NP_115495.3:p.Gln5420Lys | |
| XM_017009963.2:c.16279C>A | XP_016865452.1:p.Gln5427Lys | |
| XM_017009964.2:c.16276C>A | XP_016865453.1:p.Gln5426Lys | |
| XM_017009965.1:c.16276C>A | XP_016865454.1:p.Gln5426Lys | |
| XM_017009966.2:c.16198C>A | XP_016865455.1:p.Gln5400Lys | |
| XM_017009967.1:c.16183C>A | XP_016865456.1:p.Gln5395Lys | |
| XM_017009968.2:c.16099C>A | XP_016865457.1:p.Gln5367Lys | |
| XM_017009969.2:c.16279C>A | XP_016865458.1:p.Gln5427Lys | |
| XM_017009972.1:c.9397C>A | XP_016865461.1:p.Gln3133Lys | |
| XM_017009973.1:c.9376C>A | XP_016865462.1:p.Gln3126Lys | |
| NR_003149.2:n.16274C>A |