Linked Data
ClinVar Variation Id:
178364
dbSNP Id:
rs143004930
ExAC:
5:90050990 T / C
gnomAD v2:
5-90050990-T-C
gnomAD v3:
5-90755173-T-C
gnomAD v4:
5-90755173-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90755173T>C , CM000667.2:g.90755173T>C | GRCh38 |
| NC_000005.9:g.90050990T>C , CM000667.1:g.90050990T>C | GRCh37 |
| NC_000005.8:g.90086746T>C | NCBI36 |
| NG_007083.1:g.201374T>C | |
| NG_007083.2:g.230830T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.11568T>C MANE Select | ENSP00000384582.2:p.Val3856= | |
| ENST00000425867.3:c.699T>C | ENSP00000392618.3:p.Val233= | |
| ENST00000639431.1:c.265+78964T>C | ENSP00000491057.1:n.265+78964T>C | |
| ENST00000640374.1:n.4712T>C | ||
| ENST00000640464.1:n.1987T>C | ||
| ENST00000405460.6:c.11568T>C | ENSP00000384582.2:p.Val3856= | |
| ENST00000509621.1:c.4265T>C | ||
| NM_032119.3:c.11568T>C | NP_115495.3:p.Val3856= | |
| NR_003149.1:n.11581T>C | ||
| XM_011543675.1:c.11565T>C | XP_011541977.1:p.Val3855= | |
| XM_011543676.1:c.11487T>C | XP_011541978.1:p.Val3829= | |
| XM_011543677.1:c.8871T>C | XP_011541979.1:p.Val2957= | |
| XM_011543678.1:c.11568T>C | XP_011541980.1:p.Val3856= | |
| NM_032119.4:c.11568T>C MANE Select | NP_115495.3:p.Val3856= | |
| XM_017009963.2:c.11589T>C | XP_016865452.1:p.Val3863= | |
| XM_017009964.2:c.11586T>C | XP_016865453.1:p.Val3862= | |
| XM_017009965.1:c.11586T>C | XP_016865454.1:p.Val3862= | |
| XM_017009966.2:c.11508T>C | XP_016865455.1:p.Val3836= | |
| XM_017009967.1:c.11493T>C | XP_016865456.1:p.Val3831= | |
| XM_017009968.2:c.11589T>C | XP_016865457.1:p.Val3863= | |
| XM_017009969.2:c.11589T>C | XP_016865458.1:p.Val3863= | |
| XM_017009970.2:c.11589T>C | XP_016865459.1:p.Val3863= | |
| XM_017009971.2:c.11589T>C | XP_016865460.1:p.Val3863= | |
| XM_017009972.1:c.4707T>C | XP_016865461.1:p.Val1569= | |
| XM_017009973.1:c.4686T>C | XP_016865462.1:p.Val1562= | |
| NR_003149.2:n.11584T>C |