Linked Data
ClinVar Variation Id:
220213
ClinVar RCV Id:
RCV001433148
dbSNP Id:
rs864622421
gnomAD v4:
15-38299391-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299391G>A , CM000677.2:g.38299391G>A | GRCh38 |
| NC_000015.9:g.38591592G>A , CM000677.1:g.38591592G>A | GRCh37 |
| NC_000015.8:g.36378884G>A | NCBI36 |
| NG_008980.1:g.51541G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.51G>A MANE Select | ENSP00000299084.4:p.Val17= | |
| ENST00000299084.8:c.51G>A | ENSP00000299084.4:p.Val17= | |
| ENST00000561205.1:n.389G>A | ||
| ENST00000561317.1:c.-13G>A | ENSP00000453680.1:n.-13G>A | |
| NM_152594.2:c.51G>A | NP_689807.1:p.Val17= | |
| XM_005254202.2:c.87G>A | XP_005254259.1:p.Val29= | |
| XM_005254203.3:c.-15-22850G>A | XP_005254260.1:n.-15-22850G>A | |
| XM_011521288.1:c.-13G>A | XP_011519590.1:n.-13G>A | |
| XM_011521289.1:c.-13G>A | XP_011519591.1:n.-13G>A | |
| XM_011521290.1:c.-13G>A | XP_011519592.1:n.-13G>A | |
| XM_005254202.3:c.87G>A | XP_005254259.1:p.Val29= | |
| XM_011521289.3:c.-13G>A | XP_011519591.1:n.-13G>A | |
| NM_152594.3:c.51G>A MANE Select | NP_689807.1:p.Val17= |