Linked Data
ClinVar Variation Id:
178758
dbSNP Id:
rs139640247
ExAC:
5:13922252 G / A
gnomAD v2:
5-13922252-G-A
gnomAD v3:
5-13922143-G-A
gnomAD v4:
5-13922143-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13922143G>A , CM000667.2:g.13922143G>A | GRCh38 |
| NC_000005.9:g.13922252G>A , CM000667.1:g.13922252G>A | GRCh37 |
| NC_000005.8:g.13975252G>A | NCBI36 |
| NG_013081.1:g.27338C>T | |
| NG_013081.2:g.27338C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.680C>T | ||
| ENST00000682376.1:n.668C>T | ||
| ENST00000682586.1:n.668C>T | ||
| ENST00000683011.1:n.563C>T | ||
| ENST00000683967.1:n.674C>T | ||
| ENST00000684013.1:n.674C>T | ||
| ENST00000684099.1:n.719C>T | ||
| ENST00000265104.5:c.624C>T MANE Select | ENSP00000265104.4:p.Asn208= | |
| ENST00000680213.1:c.384C>T | ENSP00000506622.1:p.Asn128= | |
| ENST00000681290.1:c.579C>T | ENSP00000505288.1:p.Asn193= | |
| ENST00000265104.4:c.624C>T | ENSP00000265104.4:p.Asn208= | |
| ENST00000508040.1:n.983C>T | ||
| NM_001369.2:c.624C>T | NP_001360.1:p.Asn208= | |
| XM_005248262.2:c.579C>T | XP_005248319.1:p.Asn193= | |
| XM_011513990.1:c.624C>T | XP_011512292.1:p.Asn208= | |
| XR_925598.1:n.831C>T | ||
| XM_005248262.3:c.732C>T | XP_005248319.2:p.Asn244= | |
| XM_017009177.1:c.732C>T | XP_016864666.1:p.Asn244= | |
| XM_017009178.1:c.-413C>T | XP_016864667.1:n.-413C>T | |
| XM_017009180.1:c.732C>T | XP_016864669.1:p.Asn244= | |
| XM_017009181.1:c.732C>T | XP_016864670.1:p.Asn244= | |
| XM_017009182.1:c.732C>T | XP_016864671.1:p.Asn244= | |
| XM_017009183.1:c.732C>T | XP_016864672.1:p.Asn244= | |
| XM_017009184.1:c.732C>T | XP_016864673.1:p.Asn244= | |
| XM_017009187.1:c.732C>T | XP_016864676.1:p.Asn244= | |
| XM_024454388.1:c.-2283C>T | XP_024310156.1:n.-2283C>T | |
| XM_024454389.1:c.-1336C>T | XP_024310157.1:n.-1336C>T | |
| XR_001742034.1:n.749C>T | ||
| XR_001742035.1:n.749C>T | ||
| NM_001369.3:c.624C>T MANE Select | NP_001360.1:p.Asn208= |