Linked Data
dbSNP Id:
rs367999187
ExAC:
6:150710659 A / G
gnomAD v2:
6-150710659-A-G
gnomAD v3:
6-150389523-A-G
gnomAD v4:
6-150389523-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150389523A>G , CM000668.2:g.150389523A>G | GRCh38 |
| NC_000006.11:g.150710659A>G , CM000668.1:g.150710659A>G | GRCh37 |
| NC_000006.10:g.150752352A>G | NCBI36 |
| NG_016007.1:g.25632A>G | |
| NG_016007.2:g.25632A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344419.8:c.350A>G MANE Select | ENSP00000343763.4:p.Asp117Gly | |
| ENST00000229447.9:c.350A>G | ENSP00000229447.5:p.Asp117Gly | |
| ENST00000344419.7:c.350A>G | ENSP00000343763.3:p.Asp117Gly | |
| ENST00000367335.7:c.350A>G | ENSP00000356304.3:p.Asp117Gly | |
| ENST00000392255.7:c.350A>G | ENSP00000376084.3:p.Asp117Gly | |
| ENST00000392256.6:c.350A>G | ENSP00000376085.2:p.Asp117Gly | |
| ENST00000422583.2:c.179+48A>G | ENSP00000397342.2:n.179+48A>G | |
| ENST00000425615.3:c.185A>G | ENSP00000390081.3:p.Asp62Gly | |
| ENST00000500320.7:c.350A>G | ENSP00000441276.1:p.Asp117Gly | |
| ENST00000546121.1:n.293A>G | ||
| NM_001164694.1:c.350A>G | NP_001158166.1:p.Asp117Gly | |
| NM_001164695.1:c.350A>G | NP_001158167.1:p.Asp117Gly | |
| NM_203395.2:c.350A>G | NP_981932.1:p.Asp117Gly | |
| XM_006715478.2:c.350A>G | XP_006715541.1:p.Asp117Gly | |
| XM_006715479.2:c.185A>G | XP_006715542.1:p.Asp62Gly | |
| XR_245516.3:n.513A>G | ||
| NM_001318495.1:c.124+48A>G | NP_001305424.1:n.124+48A>G | |
| NR_134655.1:n.490A>G | ||
| XM_006715478.3:c.350A>G | XP_006715541.1:p.Asp117Gly | |
| XM_006715479.3:c.185A>G | XP_006715542.1:p.Asp62Gly | |
| NM_001164694.2:c.350A>G | NP_001158166.1:p.Asp117Gly | |
| NM_001164695.2:c.350A>G | NP_001158167.1:p.Asp117Gly | |
| NM_001318495.2:c.124+48A>G | NP_001305424.1:n.124+48A>G | |
| NM_203395.3:c.350A>G MANE Select | NP_981932.1:p.Asp117Gly | |
| NR_134655.2:n.370A>G |