Linked Data
ClinVar Variation Id:
2924470
ClinVar RCV Id:
RCV003786220
dbSNP Id:
rs774560137
ExAC:
17:7918681 G / A
gnomAD v2:
17-7918681-G-A
gnomAD v3:
17-8015363-G-A
gnomAD v4:
17-8015363-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015363G>A , CM000679.2:g.8015363G>A | GRCh38 |
| NC_000017.10:g.7918681G>A , CM000679.1:g.7918681G>A | GRCh37 |
| NC_000017.9:g.7859406G>A | NCBI36 |
| NG_009092.1:g.17694G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2805G>A MANE Select | ENSP00000254854.4:p.Ser935= | |
| ENST00000254854.4:c.2805G>A | ENSP00000254854.4:p.Ser935= | |
| NM_000180.3:c.2805G>A | NP_000171.1:p.Ser935= | |
| XM_011523816.1:c.2805G>A | XP_011522118.1:p.Ser935= | |
| NM_000180.4:c.2805G>A MANE Select | NP_000171.1:p.Ser935= |