Linked Data
ClinVar Variation Id:
497242
dbSNP Id:
rs144269892
ExAC:
5:90052843 C / T
gnomAD v2:
5-90052843-C-T
gnomAD v3:
5-90757026-C-T
gnomAD v4:
5-90757026-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90757026C>T , CM000667.2:g.90757026C>T | GRCh38 |
| NC_000005.9:g.90052843C>T , CM000667.1:g.90052843C>T | GRCh37 |
| NC_000005.8:g.90088599C>T | NCBI36 |
| NG_007083.1:g.203227C>T | |
| NG_007083.2:g.232683C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.11805C>T MANE Select | ENSP00000384582.2:p.Asn3935= | |
| ENST00000425867.3:c.759C>T | ENSP00000392618.3:p.Asn253= | |
| ENST00000639431.1:c.265+80817C>T | ENSP00000491057.1:n.265+80817C>T | |
| ENST00000639884.1:n.459C>T | ||
| ENST00000640374.1:n.4772C>T | ||
| ENST00000640464.1:n.2224C>T | ||
| ENST00000405460.6:c.11805C>T | ENSP00000384582.2:p.Asn3935= | |
| ENST00000509621.1:c.4502C>T | ||
| NM_032119.3:c.11805C>T | NP_115495.3:p.Asn3935= | |
| NR_003149.1:n.11818C>T | ||
| XM_011543675.1:c.11802C>T | XP_011541977.1:p.Asn3934= | |
| XM_011543676.1:c.11724C>T | XP_011541978.1:p.Asn3908= | |
| XM_011543677.1:c.9108C>T | XP_011541979.1:p.Asn3036= | |
| XM_011543678.1:c.11805C>T | XP_011541980.1:p.Asn3935= | |
| NM_032119.4:c.11805C>T MANE Select | NP_115495.3:p.Asn3935= | |
| XM_017009963.2:c.11826C>T | XP_016865452.1:p.Asn3942= | |
| XM_017009964.2:c.11823C>T | XP_016865453.1:p.Asn3941= | |
| XM_017009965.1:c.11823C>T | XP_016865454.1:p.Asn3941= | |
| XM_017009966.2:c.11745C>T | XP_016865455.1:p.Asn3915= | |
| XM_017009967.1:c.11730C>T | XP_016865456.1:p.Asn3910= | |
| XM_017009968.2:c.11826C>T | XP_016865457.1:p.Asn3942= | |
| XM_017009969.2:c.11826C>T | XP_016865458.1:p.Asn3942= | |
| XM_017009970.2:c.11826C>T | XP_016865459.1:p.Asn3942= | |
| XM_017009971.2:c.11826C>T | XP_016865460.1:p.Asn3942= | |
| XM_017009972.1:c.4944C>T | XP_016865461.1:p.Asn1648= | |
| XM_017009973.1:c.4923C>T | XP_016865462.1:p.Asn1641= | |
| NR_003149.2:n.11821C>T |