Linked Data
ClinVar Variation Id:
351202
dbSNP Id:
rs199951976
ExAC:
5:13894790 C / T
gnomAD v2:
5-13894790-C-T
gnomAD v3:
5-13894681-C-T
gnomAD v4:
5-13894681-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13894681C>T , CM000667.2:g.13894681C>T | GRCh38 |
| NC_000005.9:g.13894790C>T , CM000667.1:g.13894790C>T | GRCh37 |
| NC_000005.8:g.13947790C>T | NCBI36 |
| NG_013081.1:g.54800G>A | |
| NG_013081.2:g.54800G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.2400G>A MANE Select | ENSP00000265104.4:p.Glu800= | |
| ENST00000681290.1:c.2355G>A | ENSP00000505288.1:p.Glu785= | |
| ENST00000265104.4:c.2400G>A | ENSP00000265104.4:p.Glu800= | |
| NM_001369.2:c.2400G>A | NP_001360.1:p.Glu800= | |
| XM_005248262.2:c.2355G>A | XP_005248319.1:p.Glu785= | |
| XM_011513990.1:c.2400G>A | XP_011512292.1:p.Glu800= | |
| XR_925598.1:n.2607G>A | ||
| XM_005248262.3:c.2508G>A | XP_005248319.2:p.Glu836= | |
| XM_017009177.1:c.2508G>A | XP_016864666.1:p.Glu836= | |
| XM_017009178.1:c.1413G>A | XP_016864667.1:p.Glu471= | |
| XM_017009179.2:c.1413G>A | XP_016864668.1:p.Glu471= | |
| XM_017009180.1:c.2508G>A | XP_016864669.1:p.Glu836= | |
| XM_017009181.1:c.2508G>A | XP_016864670.1:p.Glu836= | |
| XM_017009182.1:c.2508G>A | XP_016864671.1:p.Glu836= | |
| XM_017009183.1:c.2508G>A | XP_016864672.1:p.Glu836= | |
| XM_017009184.1:c.2508G>A | XP_016864673.1:p.Glu836= | |
| XM_017009187.1:c.2508G>A | XP_016864676.1:p.Glu836= | |
| XM_024454388.1:c.1413G>A | XP_024310156.1:p.Glu471= | |
| XM_024454389.1:c.1002G>A | XP_024310157.1:p.Glu334= | |
| XR_001742034.1:n.2525G>A | ||
| XR_001742035.1:n.2525G>A | ||
| NM_001369.3:c.2400G>A MANE Select | NP_001360.1:p.Glu800= |