Linked Data
ClinVar Variation Id:
3084005
ClinVar RCV Id:
RCV004376811
dbSNP Id:
rs769058578
ExAC:
5:13769194 C / T
gnomAD v2:
5-13769194-C-T
gnomAD v3:
5-13769085-C-T
gnomAD v4:
5-13769085-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13769085C>T , CM000667.2:g.13769085C>T | GRCh38 |
| NC_000005.9:g.13769194C>T , CM000667.1:g.13769194C>T | GRCh37 |
| NC_000005.8:g.13822194C>T | NCBI36 |
| NG_013081.1:g.180396G>A | |
| NG_013081.2:g.180396G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9772G>A MANE Select | ENSP00000265104.4:p.Glu3258Lys | |
| ENST00000681290.1:c.9727G>A | ENSP00000505288.1:p.Glu3243Lys | |
| ENST00000265104.4:c.9772G>A | ENSP00000265104.4:p.Glu3258Lys | |
| ENST00000504001.3:n.484G>A | ||
| NM_001369.2:c.9772G>A | NP_001360.1:p.Glu3258Lys | |
| XM_005248262.2:c.9727G>A | XP_005248319.1:p.Glu3243Lys | |
| XM_005248262.3:c.9880G>A | XP_005248319.2:p.Glu3294Lys | |
| XM_017009177.1:c.9880G>A | XP_016864666.1:p.Glu3294Lys | |
| XM_017009178.1:c.8785G>A | XP_016864667.1:p.Glu2929Lys | |
| XM_017009179.2:c.8785G>A | XP_016864668.1:p.Glu2929Lys | |
| XM_017009180.1:c.9880G>A | XP_016864669.1:p.Glu3294Lys | |
| XM_017009181.1:c.9880G>A | XP_016864670.1:p.Glu3294Lys | |
| XM_017009182.1:c.9880G>A | XP_016864671.1:p.Glu3294Lys | |
| XM_017009185.1:c.4969G>A | XP_016864674.1:p.Glu1657Lys | |
| XM_017009186.1:c.4522G>A | XP_016864675.1:p.Glu1508Lys | |
| XM_017009188.1:c.3859G>A | XP_016864677.1:p.Glu1287Lys | |
| XM_024454388.1:c.8785G>A | XP_024310156.1:p.Glu2929Lys | |
| XM_024454389.1:c.8374G>A | XP_024310157.1:p.Glu2792Lys | |
| NM_001369.3:c.9772G>A MANE Select | NP_001360.1:p.Glu3258Lys |