Linked Data
dbSNP Id:
rs145790851
ExAC:
2:234183377 G / A
gnomAD v2:
2-234183377-G-A
gnomAD v3:
2-233274731-G-A
gnomAD v4:
2-233274731-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233274731G>A , CM000664.2:g.233274731G>A | GRCh38 |
| NC_000002.11:g.234183377G>A , CM000664.1:g.234183377G>A | GRCh37 |
| NC_000002.10:g.233848116G>A | NCBI36 |
| NG_023038.1:g.28161G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392017.9:c.907G>A MANE Select | ENSP00000375872.4:p.Gly303Ser | |
| ENST00000347464.9:c.418G>A | ENSP00000318259.6:p.Gly140Ser | |
| ENST00000373525.9:c.475G>A | ENSP00000362625.5:p.Gly159Ser | |
| ENST00000392017.8:c.907G>A | ENSP00000375872.4:p.Gly303Ser | |
| ENST00000392018.1:c.958G>A | ENSP00000375873.1:p.Gly320Ser | |
| ENST00000392020.8:c.850G>A | ENSP00000375875.4:p.Gly284Ser | |
| ENST00000392021.7:c.*788G>A | ENSP00000375876.3:n.*788G>A | |
| ENST00000419681.5:c.418G>A | ENSP00000398773.1:p.Gly140Ser | |
| ENST00000444735.5:c.526G>A | ENSP00000409215.1:p.Gly176Ser | |
| ENST00000474148.5:n.1702G>A | ||
| ENST00000479942.5:n.1053G>A | ||
| ENST00000492298.5:n.428G>A | ||
| ENST00000498620.5:n.414G>A | ||
| NM_001190266.1:c.655G>A | NP_001177195.1:p.Gly219Ser | |
| NM_001190267.1:c.559G>A | NP_001177196.1:p.Gly187Ser | |
| NM_017974.3:c.850G>A | NP_060444.3:p.Gly284Ser | |
| NM_030803.6:c.907G>A | NP_110430.5:p.Gly303Ser | |
| NM_198890.2:c.418G>A | NP_942593.2:p.Gly140Ser | |
| XM_005246082.1:c.958G>A | XP_005246139.1:p.Gly320Ser | |
| XM_005246084.1:c.526G>A | XP_005246141.1:p.Gly176Ser | |
| XM_005246086.1:c.475G>A | XP_005246143.1:p.Gly159Ser | |
| XM_006712608.1:c.706G>A | XP_006712671.1:p.Gly236Ser | |
| XR_241242.1:n.1152G>A | ||
| NM_001363742.1:c.958G>A | NP_001350671.1:p.Gly320Ser | |
| XM_005246084.2:c.526G>A | XP_005246141.1:p.Gly176Ser | |
| XM_005246086.2:c.475G>A | XP_005246143.1:p.Gly159Ser | |
| XM_006712608.3:c.706G>A | XP_006712671.1:p.Gly236Ser | |
| XR_001738801.2:n.1088G>A | ||
| XR_241242.3:n.1139G>A | ||
| NM_030803.7:c.907G>A MANE Select | NP_110430.5:p.Gly303Ser | |
| NM_001190266.2:c.655G>A | NP_001177195.1:p.Gly219Ser | |
| NM_001190267.2:c.559G>A | NP_001177196.1:p.Gly187Ser | |
| NM_001363742.2:c.958G>A | NP_001350671.1:p.Gly320Ser | |
| NM_017974.4:c.850G>A | NP_060444.3:p.Gly284Ser | |
| NM_198890.3:c.418G>A | NP_942593.2:p.Gly140Ser |