Linked Data
ClinVar Variation Id:
133924
ClinVar RCV Id:
RCV000120591
dbSNP Id:
rs143247685
ExAC:
16:3820723 T / A
gnomAD v2:
16-3820723-T-A
gnomAD v3:
16-3770722-T-A
gnomAD v4:
16-3770722-T-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3770722T>A , CM000678.2:g.3770722T>A | GRCh38 |
| NC_000016.9:g.3820723T>A , CM000678.1:g.3820723T>A | GRCh37 |
| NC_000016.8:g.3760724T>A | NCBI36 |
| NG_009873.1:g.114399A>T | |
| NG_009873.2:g.114992A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.2728A>T MANE Select | ENSP00000262367.5:p.Thr910Ser | |
| ENST00000262367.9:c.2728A>T | ENSP00000262367.5:p.Thr910Ser | |
| ENST00000382070.7:c.2614A>T | ENSP00000371502.3:p.Thr872Ser | |
| ENST00000570939.2:c.1333A>T | ENSP00000461002.2:p.Thr445Ser | |
| NM_001079846.1:c.2614A>T | NP_001073315.1:p.Thr872Ser | |
| NM_004380.2:c.2728A>T | NP_004371.2:p.Thr910Ser | |
| XM_005255124.3:c.2683A>T | XP_005255181.1:p.Thr895Ser | |
| XM_005255125.3:c.2464-1369A>T | XP_005255182.1:n.2464-1369A>T | |
| XM_006720848.2:c.2728A>T | XP_006720911.1:p.Thr910Ser | |
| XM_011522380.1:c.2674A>T | XP_011520682.1:p.Thr892Ser | |
| XM_011522381.1:c.1975A>T | XP_011520683.1:p.Thr659Ser | |
| XM_011522382.1:c.2728A>T | XP_011520684.1:p.Thr910Ser | |
| XM_005255124.4:c.2683A>T | XP_005255181.1:p.Thr895Ser | |
| XM_005255125.4:c.2464-1369A>T | XP_005255182.1:n.2464-1369A>T | |
| XM_006720848.3:c.2728A>T | XP_006720911.1:p.Thr910Ser | |
| XM_011522381.2:c.1975A>T | XP_011520683.1:p.Thr659Ser | |
| XM_011522382.3:c.2728A>T | XP_011520684.1:p.Thr910Ser | |
| XM_017022944.1:c.2722A>T | XP_016878433.1:p.Thr908Ser | |
| NM_004380.3:c.2728A>T MANE Select | NP_004371.2:p.Thr910Ser |