Linked Data
ClinVar Variation Id:
315774
ClinVar RCV Id:
RCV000381241
dbSNP Id:
rs8039150
gnomAD v2:
15-38647695-G-A
gnomAD v3:
15-38355494-G-A
gnomAD v4:
15-38355494-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38355494G>A , CM000677.2:g.38355494G>A | GRCh38 |
| NC_000015.9:g.38647695G>A , CM000677.1:g.38647695G>A | GRCh37 |
| NC_000015.8:g.36434987G>A | NCBI36 |
| NG_008980.1:g.107644G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.*3830G>A MANE Select | ENSP00000299084.4:n.*3830G>A | |
| ENST00000299084.8:c.*3830G>A | ENSP00000299084.4:n.*3830G>A | |
| NM_152594.2:c.*3830G>A | NP_689807.1:n.*3830G>A | |
| XM_005254202.2:c.*3830G>A | XP_005254259.1:n.*3830G>A | |
| XM_005254203.3:c.*3830G>A | XP_005254260.1:n.*3830G>A | |
| XM_011521288.1:c.*3830G>A | XP_011519590.1:n.*3830G>A | |
| XM_011521289.1:c.*3830G>A | XP_011519591.1:n.*3830G>A | |
| XM_011521290.1:c.*3830G>A | XP_011519592.1:n.*3830G>A | |
| XM_005254202.3:c.*3830G>A | XP_005254259.1:n.*3830G>A | |
| XM_011521289.3:c.*3830G>A | XP_011519591.1:n.*3830G>A | |
| NM_152594.3:c.*3830G>A MANE Select | NP_689807.1:n.*3830G>A |