Linked Data
ClinVar Variation Id:
163599
dbSNP Id:
rs182115637
ExAC:
5:90050984 C / T
gnomAD v2:
5-90050984-C-T
gnomAD v3:
5-90755167-C-T
gnomAD v4:
5-90755167-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90755167C>T , CM000667.2:g.90755167C>T | GRCh38 |
| NC_000005.9:g.90050984C>T , CM000667.1:g.90050984C>T | GRCh37 |
| NC_000005.8:g.90086740C>T | NCBI36 |
| NG_007083.1:g.201368C>T | |
| NG_007083.2:g.230824C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.11562C>T MANE Select | ENSP00000384582.2:p.Ala3854= | |
| ENST00000425867.3:c.693C>T | ENSP00000392618.3:p.Ala231= | |
| ENST00000639431.1:c.265+78958C>T | ENSP00000491057.1:n.265+78958C>T | |
| ENST00000640374.1:n.4706C>T | ||
| ENST00000640464.1:n.1981C>T | ||
| ENST00000405460.6:c.11562C>T | ENSP00000384582.2:p.Ala3854= | |
| ENST00000509621.1:c.4259C>T | ||
| NM_032119.3:c.11562C>T | NP_115495.3:p.Ala3854= | |
| NR_003149.1:n.11575C>T | ||
| XM_011543675.1:c.11559C>T | XP_011541977.1:p.Ala3853= | |
| XM_011543676.1:c.11481C>T | XP_011541978.1:p.Ala3827= | |
| XM_011543677.1:c.8865C>T | XP_011541979.1:p.Ala2955= | |
| XM_011543678.1:c.11562C>T | XP_011541980.1:p.Ala3854= | |
| NM_032119.4:c.11562C>T MANE Select | NP_115495.3:p.Ala3854= | |
| XM_017009963.2:c.11583C>T | XP_016865452.1:p.Ala3861= | |
| XM_017009964.2:c.11580C>T | XP_016865453.1:p.Ala3860= | |
| XM_017009965.1:c.11580C>T | XP_016865454.1:p.Ala3860= | |
| XM_017009966.2:c.11502C>T | XP_016865455.1:p.Ala3834= | |
| XM_017009967.1:c.11487C>T | XP_016865456.1:p.Ala3829= | |
| XM_017009968.2:c.11583C>T | XP_016865457.1:p.Ala3861= | |
| XM_017009969.2:c.11583C>T | XP_016865458.1:p.Ala3861= | |
| XM_017009970.2:c.11583C>T | XP_016865459.1:p.Ala3861= | |
| XM_017009971.2:c.11583C>T | XP_016865460.1:p.Ala3861= | |
| XM_017009972.1:c.4701C>T | XP_016865461.1:p.Ala1567= | |
| XM_017009973.1:c.4680C>T | XP_016865462.1:p.Ala1560= | |
| NR_003149.2:n.11578C>T |