Linked Data
dbSNP Id:
rs756680020
ExAC:
17:71192650 A / G
gnomAD v2:
17-71192650-A-G
gnomAD v3:
17-73196511-A-G
gnomAD v4:
17-73196511-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73196511A>G , CM000679.2:g.73196511A>G | GRCh38 |
| NC_000017.10:g.71192650A>G , CM000679.1:g.71192650A>G | GRCh37 |
| NC_000017.9:g.68704245A>G | NCBI36 |
| NG_008971.1:g.8478A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.9:c.320A>G MANE Select | ENSP00000299886.4:p.Gln107Arg | |
| ENST00000299886.8:c.320A>G | ENSP00000299886.4:p.Gln107Arg | |
| ENST00000438720.7:c.318A>G | ||
| ENST00000582587.2:c.317A>G | ||
| ENST00000618996.4:c.320A>G | ENSP00000479450.1:p.Gln107Arg | |
| NM_018714.2:c.320A>G | NP_061184.1:p.Gln107Arg | |
| NM_018714.3:c.320A>G MANE Select | NP_061184.1:p.Gln107Arg |