Linked Data
ClinVar Variation Id:
1096263
ClinVar RCV Id:
RCV001417429
dbSNP Id:
rs771977539
ExAC:
5:13781015 G / A
gnomAD v2:
5-13781015-G-A
gnomAD v3:
5-13780906-G-A
gnomAD v4:
5-13780906-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13780906G>A , CM000667.2:g.13780906G>A | GRCh38 |
| NC_000005.9:g.13781015G>A , CM000667.1:g.13781015G>A | GRCh37 |
| NC_000005.8:g.13834015G>A | NCBI36 |
| NG_013081.1:g.168575C>T | |
| NG_013081.2:g.168575C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.8874C>T MANE Select | ENSP00000265104.4:p.Gly2958= | |
| ENST00000681290.1:c.8829C>T | ENSP00000505288.1:p.Gly2943= | |
| ENST00000265104.4:c.8874C>T | ENSP00000265104.4:p.Gly2958= | |
| NM_001369.2:c.8874C>T | NP_001360.1:p.Gly2958= | |
| XM_005248262.2:c.8829C>T | XP_005248319.1:p.Gly2943= | |
| XM_011513990.1:c.8874C>T | XP_011512292.1:p.Gly2958= | |
| XR_925598.1:n.9028-3551C>T | ||
| XM_005248262.3:c.8982C>T | XP_005248319.2:p.Gly2994= | |
| XM_017009177.1:c.8982C>T | XP_016864666.1:p.Gly2994= | |
| XM_017009178.1:c.7887C>T | XP_016864667.1:p.Gly2629= | |
| XM_017009179.2:c.7887C>T | XP_016864668.1:p.Gly2629= | |
| XM_017009180.1:c.8982C>T | XP_016864669.1:p.Gly2994= | |
| XM_017009181.1:c.8982C>T | XP_016864670.1:p.Gly2994= | |
| XM_017009182.1:c.8982C>T | XP_016864671.1:p.Gly2994= | |
| XM_017009183.1:c.8982C>T | XP_016864672.1:p.Gly2994= | |
| XM_017009184.1:c.8982C>T | XP_016864673.1:p.Gly2994= | |
| XM_017009185.1:c.4071C>T | XP_016864674.1:p.Gly1357= | |
| XM_017009186.1:c.3624C>T | XP_016864675.1:p.Gly1208= | |
| XM_017009188.1:c.2961C>T | XP_016864677.1:p.Gly987= | |
| XM_024454388.1:c.7887C>T | XP_024310156.1:p.Gly2629= | |
| XM_024454389.1:c.7476C>T | XP_024310157.1:p.Gly2492= | |
| XR_001742034.1:n.8946-3551C>T | ||
| XR_001742035.1:n.8946-3551C>T | ||
| NM_001369.3:c.8874C>T MANE Select | NP_001360.1:p.Gly2958= |