Linked Data
ClinVar Variation Id:
406901
dbSNP Id:
rs776146178
ExAC:
8:145736909 C / T
gnomAD v2:
8-145736909-C-T
gnomAD v3:
8-144511526-C-T
gnomAD v4:
8-144511526-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144511526C>T , CM000670.2:g.144511526C>T | GRCh38 |
| NC_000008.10:g.145736909C>T , CM000670.1:g.145736909C>T | GRCh37 |
| NC_000008.9:g.145707717C>T | NCBI36 |
| NG_016430.1:g.11301G>A | |
| NG_016430.2:g.11301G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.3532G>A MANE Select | ENSP00000482313.2:p.Gly1178Arg | |
| ENST00000301323.7:c.549G>A | ||
| ENST00000529424.2:n.188G>A | ||
| ENST00000531875.2:c.787G>A | ENSP00000477910.1:p.Gly263Arg | |
| ENST00000617875.4:c.3532G>A | ENSP00000482313.1:p.Gly1178Arg | |
| ENST00000621189.4:c.2461G>A | ENSP00000483145.1:p.Gly821Arg | |
| NM_004260.3:c.3532G>A | NP_004251.3:p.Gly1178Arg | |
| XM_011517380.1:c.3607G>A | XP_011515682.1:p.Gly1203Arg | |
| XM_011517381.1:c.3511G>A | XP_011515683.1:p.Gly1171Arg | |
| XM_011517382.1:c.3415G>A | XP_011515684.1:p.Gly1139Arg | |
| XM_011517383.1:c.3409G>A | XP_011515685.1:p.Gly1137Arg | |
| XM_011517384.1:c.3334G>A | XP_011515686.1:p.Gly1112Arg | |
| XM_011517385.1:c.2470G>A | XP_011515687.1:p.Gly824Arg | |
| XR_928366.1:n.3491G>A | ||
| XR_928367.1:n.3587G>A | ||
| XR_928368.1:n.3480G>A | ||
| XM_011517384.3:c.3334G>A | XP_011515686.1:p.Gly1112Arg | |
| XM_017013991.2:c.3818G>A | XP_016869480.1:p.Arg1273Gln | |
| XM_017013992.2:c.3743G>A | XP_016869481.1:p.Arg1248Gln | |
| XM_017013993.2:c.3728G>A | XP_016869482.1:p.Arg1243Gln | |
| XM_017013994.2:c.3722G>A | XP_016869483.1:p.Arg1241Gln | |
| XM_017013995.2:c.3653G>A | XP_016869484.1:p.Arg1218Gln | |
| XM_017013996.2:c.3697G>A | XP_016869485.1:p.Gly1233Arg | |
| XM_017013997.2:c.3620G>A | XP_016869486.1:p.Arg1207Gln | |
| XM_017013998.1:c.3622G>A | XP_016869487.1:p.Gly1208Arg | |
| XM_017013999.2:c.3530G>A | XP_016869488.1:p.Arg1177Gln | |
| XM_017014000.1:c.2681G>A | XP_016869489.1:p.Arg894Gln | |
| XM_017014001.2:c.2591G>A | XP_016869490.1:p.Arg864Gln | |
| XR_001745626.2:n.3577G>A | ||
| XR_001745627.2:n.3673G>A | ||
| XR_001745628.2:n.3564G>A | ||
| XR_001745629.2:n.3427G>A | ||
| XR_001745630.2:n.3229G>A | ||
| NM_004260.4:c.3532G>A MANE Select | NP_004251.4:p.Gly1178Arg |