Linked Data
ClinVar Variation Id:
1334938
dbSNP Id:
rs2074190
ExAC:
17:45811210 A / G
gnomAD v2:
17-45811210-A-G
gnomAD v3:
17-47733844-A-G
gnomAD v4:
17-47733844-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733844A>G , CM000679.2:g.47733844A>G | GRCh38 |
| NC_000017.10:g.45811210A>G , CM000679.1:g.45811210A>G | GRCh37 |
| NC_000017.9:g.43166209A>G | NCBI36 |
| NG_012166.1:g.5601A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000177694.2:c.390A>G MANE Select | ENSP00000177694.1:p.Gly130= | |
| ENST00000177694.1:c.390A>G | ENSP00000177694.1:p.Gly130= | |
| ENST00000581328.1:n.420A>G | ||
| NM_013351.1:c.390A>G | NP_037483.1:p.Gly130= | |
| XM_011524698.1:c.390A>G | XP_011523000.1:p.Gly130= | |
| NM_013351.2:c.390A>G MANE Select | NP_037483.1:p.Gly130= |