Linked Data
ClinVar Variation Id:
525563
dbSNP Id:
rs1024441903
gnomAD v2:
5-13735968-C-T
gnomAD v4:
5-13735859-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13735859C>T , CM000667.2:g.13735859C>T | GRCh38 |
| NC_000005.9:g.13735968C>T , CM000667.1:g.13735968C>T | GRCh37 |
| NC_000005.8:g.13788968C>T | NCBI36 |
| NG_013081.1:g.213622G>A | |
| NG_013081.2:g.213622G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.11529G>A MANE Select | ENSP00000265104.4:p.Ser3843= | |
| ENST00000681290.1:c.11484G>A | ENSP00000505288.1:p.Ser3828= | |
| ENST00000265104.4:c.11529G>A | ENSP00000265104.4:p.Ser3843= | |
| NM_001369.2:c.11529G>A | NP_001360.1:p.Ser3843= | |
| XM_005248262.2:c.11484G>A | XP_005248319.1:p.Ser3828= | |
| XM_005248262.3:c.11637G>A | XP_005248319.2:p.Ser3879= | |
| XM_017009177.1:c.11637G>A | XP_016864666.1:p.Ser3879= | |
| XM_017009178.1:c.10542G>A | XP_016864667.1:p.Ser3514= | |
| XM_017009179.2:c.10542G>A | XP_016864668.1:p.Ser3514= | |
| XM_017009180.1:c.11637G>A | XP_016864669.1:p.Ser3879= | |
| XM_017009181.1:c.11637G>A | XP_016864670.1:p.Ser3879= | |
| XM_017009182.1:c.11393G>A | XP_016864671.1:p.Arg3798His | |
| XM_017009185.1:c.6726G>A | XP_016864674.1:p.Ser2242= | |
| XM_017009186.1:c.6279G>A | XP_016864675.1:p.Ser2093= | |
| XM_017009188.1:c.5616G>A | XP_016864677.1:p.Ser1872= | |
| XM_024454388.1:c.10542G>A | XP_024310156.1:p.Ser3514= | |
| XM_024454389.1:c.10131G>A | XP_024310157.1:p.Ser3377= | |
| NM_001369.3:c.11529G>A MANE Select | NP_001360.1:p.Ser3843= |