Linked Data
ClinVar Variation Id:
1341771
ClinVar RCV Id:
RCV001837251
dbSNP Id:
rs1452661347
gnomAD v2:
15-38545418-A-T
gnomAD v3:
15-38253217-A-T
gnomAD v4:
15-38253217-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38253217A>T , CM000677.2:g.38253217A>T | GRCh38 |
| NC_000015.9:g.38545418A>T , CM000677.1:g.38545418A>T | GRCh37 |
| NC_000015.8:g.36332710A>T | NCBI36 |
| NG_008980.1:g.5367A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.32A>T MANE Select | ENSP00000299084.4:p.Asp11Val | |
| ENST00000299084.8:c.32A>T | ENSP00000299084.4:p.Asp11Val | |
| ENST00000561205.1:n.370A>T | ||
| ENST00000561317.1:c.-96A>T | ENSP00000453680.1:n.-96A>T | |
| NM_152594.2:c.32A>T | NP_689807.1:p.Asp11Val | |
| XM_005254202.2:c.32A>T | XP_005254259.1:p.Glu11Val | |
| XM_005254203.3:c.-16A>T | XP_005254260.1:n.-16A>T | |
| XM_005254202.3:c.32A>T | XP_005254259.1:p.Glu11Val | |
| XR_001751484.1:n.87+350T>A | ||
| NM_152594.3:c.32A>T MANE Select | NP_689807.1:p.Asp11Val |