Linked Data
ClinVar Variation Id:
904913
dbSNP Id:
rs78833918
ExAC:
5:90055239 T / C
gnomAD v2:
5-90055239-T-C
gnomAD v3:
5-90759422-T-C
gnomAD v4:
5-90759422-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90759422T>C , CM000667.2:g.90759422T>C | GRCh38 |
| NC_000005.9:g.90055239T>C , CM000667.1:g.90055239T>C | GRCh37 |
| NC_000005.8:g.90090995T>C | NCBI36 |
| NG_007083.1:g.205623T>C | |
| NG_007083.2:g.235079T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.11954T>C MANE Select | ENSP00000384582.2:p.Ile3985Thr | |
| ENST00000425867.3:c.908T>C | ENSP00000392618.3:p.Ile303Thr | |
| ENST00000639431.1:c.265+83213T>C | ENSP00000491057.1:n.265+83213T>C | |
| ENST00000639884.1:n.608T>C | ||
| ENST00000640374.1:n.4921T>C | ||
| ENST00000640464.1:n.2373T>C | ||
| ENST00000405460.6:c.11954T>C | ENSP00000384582.2:p.Ile3985Thr | |
| ENST00000509621.1:c.4651T>C | ||
| NM_032119.3:c.11954T>C | NP_115495.3:p.Ile3985Thr | |
| NR_003149.1:n.11967T>C | ||
| XM_011543675.1:c.11951T>C | XP_011541977.1:p.Ile3984Thr | |
| XM_011543676.1:c.11873T>C | XP_011541978.1:p.Ile3958Thr | |
| XM_011543677.1:c.9257T>C | XP_011541979.1:p.Ile3086Thr | |
| XM_011543678.1:c.11954T>C | XP_011541980.1:p.Ile3985Thr | |
| NM_032119.4:c.11954T>C MANE Select | NP_115495.3:p.Ile3985Thr | |
| XM_017009963.2:c.11975T>C | XP_016865452.1:p.Ile3992Thr | |
| XM_017009964.2:c.11972T>C | XP_016865453.1:p.Ile3991Thr | |
| XM_017009965.1:c.11972T>C | XP_016865454.1:p.Ile3991Thr | |
| XM_017009966.2:c.11894T>C | XP_016865455.1:p.Ile3965Thr | |
| XM_017009967.1:c.11879T>C | XP_016865456.1:p.Ile3960Thr | |
| XM_017009968.2:c.11975T>C | XP_016865457.1:p.Ile3992Thr | |
| XM_017009969.2:c.11975T>C | XP_016865458.1:p.Ile3992Thr | |
| XM_017009970.2:c.11975T>C | XP_016865459.1:p.Ile3992Thr | |
| XM_017009971.2:c.11975T>C | XP_016865460.1:p.Ile3992Thr | |
| XM_017009972.1:c.5093T>C | XP_016865461.1:p.Ile1698Thr | |
| XM_017009973.1:c.5072T>C | XP_016865462.1:p.Ile1691Thr | |
| NR_003149.2:n.11970T>C |