Linked Data
ClinVar Variation Id:
2146310
ClinVar RCV Id:
RCV003067063
dbSNP Id:
rs750777752
gnomAD v4:
15-38299392-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299392C>A , CM000677.2:g.38299392C>A | GRCh38 |
| NC_000015.9:g.38591593C>A , CM000677.1:g.38591593C>A | GRCh37 |
| NC_000015.8:g.36378885C>A | NCBI36 |
| NG_008980.1:g.51542C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.52C>A MANE Select | ENSP00000299084.4:p.Arg18= | |
| ENST00000299084.8:c.52C>A | ENSP00000299084.4:p.Arg18= | |
| ENST00000561205.1:n.390C>A | ||
| ENST00000561317.1:c.-12C>A | ENSP00000453680.1:n.-12C>A | |
| NM_152594.2:c.52C>A | NP_689807.1:p.Arg18= | |
| XM_005254202.2:c.88C>A | XP_005254259.1:p.Arg30= | |
| XM_005254203.3:c.-15-22849C>A | XP_005254260.1:n.-15-22849C>A | |
| XM_011521288.1:c.-12C>A | XP_011519590.1:n.-12C>A | |
| XM_011521289.1:c.-12C>A | XP_011519591.1:n.-12C>A | |
| XM_011521290.1:c.-12C>A | XP_011519592.1:n.-12C>A | |
| XM_005254202.3:c.88C>A | XP_005254259.1:p.Arg30= | |
| XM_011521289.3:c.-12C>A | XP_011519591.1:n.-12C>A | |
| NM_152594.3:c.52C>A MANE Select | NP_689807.1:p.Arg18= |