Linked Data
ClinVar Variation Id:
1511630
ClinVar RCV Id:
RCV002020519
dbSNP Id:
rs750453951
ExAC:
9:2717872 G / A
gnomAD v2:
9-2717872-G-A
gnomAD v3:
9-2717872-G-A
gnomAD v4:
9-2717872-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2717872G>A , CM000671.2:g.2717872G>A | GRCh38 |
| NC_000009.11:g.2717872G>A , CM000671.1:g.2717872G>A | GRCh37 |
| NC_000009.10:g.2707872G>A | NCBI36 |
| NG_012181.1:g.5347G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.133G>A MANE Select | ENSP00000371514.3:p.Gly45Ser | |
| ENST00000382082.3:c.133G>A | ENSP00000371514.3:p.Gly45Ser | |
| NM_133497.3:c.133G>A | NP_598004.1:p.Gly45Ser | |
| XR_929202.1:n.634G>A | ||
| XR_929203.1:n.634G>A | ||
| NM_133497.4:c.133G>A MANE Select | NP_598004.1:p.Gly45Ser |