Linked Data
ClinVar Variation Id:
1968544
ClinVar RCV Id:
RCV002711872
dbSNP Id:
rs374858945
ExAC:
5:13736035 G / A
gnomAD v2:
5-13736035-G-A
gnomAD v3:
5-13735926-G-A
gnomAD v4:
5-13735926-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13735926G>A , CM000667.2:g.13735926G>A | GRCh38 |
| NC_000005.9:g.13736035G>A , CM000667.1:g.13736035G>A | GRCh37 |
| NC_000005.8:g.13789035G>A | NCBI36 |
| NG_013081.1:g.213555C>T | |
| NG_013081.2:g.213555C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.11462C>T MANE Select | ENSP00000265104.4:p.Thr3821Met | |
| ENST00000681290.1:c.11417C>T | ENSP00000505288.1:p.Thr3806Met | |
| ENST00000265104.4:c.11462C>T | ENSP00000265104.4:p.Thr3821Met | |
| NM_001369.2:c.11462C>T | NP_001360.1:p.Thr3821Met | |
| XM_005248262.2:c.11417C>T | XP_005248319.1:p.Thr3806Met | |
| XM_005248262.3:c.11570C>T | XP_005248319.2:p.Thr3857Met | |
| XM_017009177.1:c.11570C>T | XP_016864666.1:p.Thr3857Met | |
| XM_017009178.1:c.10475C>T | XP_016864667.1:p.Thr3492Met | |
| XM_017009179.2:c.10475C>T | XP_016864668.1:p.Thr3492Met | |
| XM_017009180.1:c.11570C>T | XP_016864669.1:p.Thr3857Met | |
| XM_017009181.1:c.11570C>T | XP_016864670.1:p.Thr3857Met | |
| XM_017009182.1:c.11326C>T | XP_016864671.1:p.Arg3776Cys | |
| XM_017009185.1:c.6659C>T | XP_016864674.1:p.Thr2220Met | |
| XM_017009186.1:c.6212C>T | XP_016864675.1:p.Thr2071Met | |
| XM_017009188.1:c.5549C>T | XP_016864677.1:p.Thr1850Met | |
| XM_024454388.1:c.10475C>T | XP_024310156.1:p.Thr3492Met | |
| XM_024454389.1:c.10064C>T | XP_024310157.1:p.Thr3355Met | |
| NM_001369.3:c.11462C>T MANE Select | NP_001360.1:p.Thr3821Met |