Linked Data
ClinVar Variation Id:
198666
dbSNP Id:
rs370906851
ExAC:
5:90119376 C / A
gnomAD v2:
5-90119376-C-A
gnomAD v3:
5-90823559-C-A
gnomAD v4:
5-90823559-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823559C>A , CM000667.2:g.90823559C>A | GRCh38 |
| NC_000005.9:g.90119376C>A , CM000667.1:g.90119376C>A | GRCh37 |
| NC_000005.8:g.90155132C>A | NCBI36 |
| NG_007083.1:g.269760C>A | |
| NG_007083.2:g.299216C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16331C>A MANE Select | ENSP00000384582.2:p.Thr5444Lys | |
| ENST00000425867.3:c.5285C>A | ENSP00000392618.3:p.Thr1762Lys | |
| ENST00000638510.1:n.3598C>A | ||
| ENST00000639431.1:c.265+147350C>A | ENSP00000491057.1:n.265+147350C>A | |
| ENST00000640061.1:n.128+1377C>A | ||
| ENST00000640407.1:c.2741C>A | ENSP00000491425.1:p.Thr914Lys | |
| ENST00000405460.6:c.16331C>A | ENSP00000384582.2:p.Thr5444Lys | |
| ENST00000425867.2:c.3314C>A | ENSP00000392618.2:p.Thr1105Lys | |
| NM_032119.3:c.16331C>A | NP_115495.3:p.Thr5444Lys | |
| NR_003149.1:n.16344C>A | ||
| XM_011543675.1:c.16328C>A | XP_011541977.1:p.Thr5443Lys | |
| XM_011543676.1:c.16250C>A | XP_011541978.1:p.Thr5417Lys | |
| XM_011543677.1:c.13634C>A | XP_011541979.1:p.Thr4545Lys | |
| NM_032119.4:c.16331C>A MANE Select | NP_115495.3:p.Thr5444Lys | |
| XM_017009963.2:c.16352C>A | XP_016865452.1:p.Thr5451Lys | |
| XM_017009964.2:c.16349C>A | XP_016865453.1:p.Thr5450Lys | |
| XM_017009965.1:c.16349C>A | XP_016865454.1:p.Thr5450Lys | |
| XM_017009966.2:c.16271C>A | XP_016865455.1:p.Thr5424Lys | |
| XM_017009967.1:c.16256C>A | XP_016865456.1:p.Thr5419Lys | |
| XM_017009968.2:c.16172C>A | XP_016865457.1:p.Thr5391Lys | |
| XM_017009969.2:c.16352C>A | XP_016865458.1:p.Thr5451Lys | |
| XM_017009972.1:c.9470C>A | XP_016865461.1:p.Thr3157Lys | |
| XM_017009973.1:c.9449C>A | XP_016865462.1:p.Thr3150Lys | |
| NR_003149.2:n.16347C>A |