Linked Data
ClinVar Variation Id:
1286196
ClinVar RCV Id:
RCV001709973
dbSNP Id:
rs3212278
gnomAD v2:
15-41224124-G-A
gnomAD v3:
15-40931926-G-A
gnomAD v4:
15-40931926-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40931926G>A , CM000677.2:g.40931926G>A | GRCh38 |
| NC_000015.9:g.41224124G>A , CM000677.1:g.41224124G>A | GRCh37 |
| NC_000015.8:g.39011416G>A | NCBI36 |
| NG_046974.1:g.7594G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.658+160G>A MANE Select | ENSP00000249749.5:n.658+160G>A | |
| ENST00000249749.6:c.658+160G>A | ENSP00000249749.5:n.658+160G>A | |
| ENST00000559440.1:n.887+160G>A | ||
| NM_019074.3:c.658+160G>A | NP_061947.1:n.658+160G>A | |
| NM_019074.4:c.658+160G>A MANE Select | NP_061947.1:n.658+160G>A |