Linked Data
ClinVar Variation Id:
1047755
dbSNP Id:
rs200286252
ExAC:
19:39062839 G / A
gnomAD v2:
19-39062839-G-A
gnomAD v3:
19-38572199-G-A
gnomAD v4:
19-38572199-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38572199G>A , CM000681.2:g.38572199G>A | GRCh38 |
| NC_000019.9:g.39062839G>A , CM000681.1:g.39062839G>A | GRCh37 |
| NC_000019.8:g.43754679G>A | NCBI36 |
| NG_008866.1:g.143500G>A , LRG_766:g.143500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.863G>A | ||
| ENST00000688602.1:c.2260G>A | ||
| ENST00000689936.1:c.2232G>A | ||
| ENST00000359596.8:c.13927G>A MANE Select | ENSP00000352608.2:p.Ala4643Thr | |
| ENST00000355481.8:c.13912G>A | ENSP00000347667.3:p.Ala4638Thr | |
| ENST00000359596.7:c.13927G>A | ENSP00000352608.2:p.Ala4643Thr | |
| ENST00000360985.7:c.13909G>A | ENSP00000354254.4:p.Ala4637Thr | |
| ENST00000593677.1:c.387G>A | ||
| NM_000540.2:c.13927G>A , LRG_766t1:c.13927G>A | NP_000531.2:p.Ala4643Thr | |
| NM_001042723.1:c.13912G>A | NP_001036188.1:p.Ala4638Thr | |
| XM_006723317.1:c.13909G>A | XP_006723380.1:p.Ala4637Thr | |
| XM_006723319.1:c.13894G>A | XP_006723382.1:p.Ala4632Thr | |
| XM_011527204.1:c.13924G>A | XP_011525506.1:p.Ala4642Thr | |
| XM_011527205.1:c.13840G>A | XP_011525507.1:p.Ala4614Thr | |
| XM_006723317.2:c.13909G>A | XP_006723380.1:p.Ala4637Thr | |
| XM_006723319.2:c.13894G>A | XP_006723382.1:p.Ala4632Thr | |
| XM_011527205.2:c.13840G>A | XP_011525507.1:p.Ala4614Thr | |
| NM_000540.3:c.13927G>A MANE Select | NP_000531.2:p.Ala4643Thr | |
| NM_001042723.2:c.13912G>A | NP_001036188.1:p.Ala4638Thr |