Linked Data
ClinVar Variation Id:
133944
ClinVar RCV Id:
RCV000120612
dbSNP Id:
rs587778217
gnomAD v3:
16-3778074-C-T
gnomAD v4:
16-3778074-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3778074C>T , CM000678.2:g.3778074C>T | GRCh38 |
| NC_000016.9:g.3828075C>T , CM000678.1:g.3828075C>T | GRCh37 |
| NC_000016.8:g.3768076C>T | NCBI36 |
| NG_009873.1:g.107047G>A | |
| NG_009873.2:g.107640G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.2050G>A MANE Select | ENSP00000262367.5:p.Ala684Thr | |
| ENST00000262367.9:c.2050G>A | ENSP00000262367.5:p.Ala684Thr | |
| ENST00000382070.7:c.1936G>A | ENSP00000371502.3:p.Ala646Thr | |
| ENST00000570939.2:c.655G>A | ENSP00000461002.2:p.Ala219Thr | |
| ENST00000571826.5:c.99G>A | ||
| ENST00000572134.1:c.363G>A | ||
| ENST00000634839.1:n.212G>A | ||
| NM_001079846.1:c.1936G>A | NP_001073315.1:p.Ala646Thr | |
| NM_004380.2:c.2050G>A | NP_004371.2:p.Ala684Thr | |
| XM_005255124.3:c.2050G>A | XP_005255181.1:p.Ala684Thr | |
| XM_005255125.3:c.2050G>A | XP_005255182.1:p.Ala684Thr | |
| XM_006720848.2:c.2050G>A | XP_006720911.1:p.Ala684Thr | |
| XM_011522380.1:c.1996G>A | XP_011520682.1:p.Ala666Thr | |
| XM_011522381.1:c.1297G>A | XP_011520683.1:p.Ala433Thr | |
| XM_011522382.1:c.2050G>A | XP_011520684.1:p.Ala684Thr | |
| XM_005255124.4:c.2050G>A | XP_005255181.1:p.Ala684Thr | |
| XM_005255125.4:c.2050G>A | XP_005255182.1:p.Ala684Thr | |
| XM_006720848.3:c.2050G>A | XP_006720911.1:p.Ala684Thr | |
| XM_011522381.2:c.1297G>A | XP_011520683.1:p.Ala433Thr | |
| XM_011522382.3:c.2050G>A | XP_011520684.1:p.Ala684Thr | |
| XM_017022944.1:c.2050G>A | XP_016878433.1:p.Ala684Thr | |
| NM_004380.3:c.2050G>A MANE Select | NP_004371.2:p.Ala684Thr |