Linked Data
ClinVar Variation Id:
285505
dbSNP Id:
rs145888212
ExAC:
1:10683142 G / A
gnomAD v2:
1-10683142-G-A
gnomAD v3:
1-10623085-G-A
gnomAD v4:
1-10623085-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10623085G>A , CM000663.2:g.10623085G>A | GRCh38 |
| NC_000001.10:g.10683142G>A , CM000663.1:g.10683142G>A | GRCh37 |
| NC_000001.9:g.10605729G>A | NCBI36 |
| NG_008340.1:g.153140G>A | |
| NG_008340.2:g.153140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.451G>A MANE Select | ENSP00000349016.4:p.Gly151Ser | |
| ENST00000356607.8:c.451G>A | ENSP00000349016.4:p.Gly151Ser | |
| ENST00000491661.2:c.436G>A | ENSP00000465473.1:p.Gly146Ser | |
| NM_004565.2:c.451G>A | NP_004556.1:p.Gly151Ser | |
| XM_005263470.3:c.259G>A | XP_005263527.1:p.Gly87Ser | |
| XM_011541577.1:c.493G>A | XP_011539879.1:p.Gly165Ser | |
| XM_011541578.1:c.394G>A | XP_011539880.1:p.Gly132Ser | |
| XM_011541579.1:c.364G>A | XP_011539881.1:p.Gly122Ser | |
| XM_011541580.1:c.322G>A | XP_011539882.1:p.Gly108Ser | |
| XM_005263470.5:c.259G>A | XP_005263527.1:p.Gly87Ser | |
| XM_011541577.2:c.493G>A | XP_011539879.1:p.Gly165Ser | |
| XM_011541578.2:c.394G>A | XP_011539880.1:p.Gly132Ser | |
| XM_011541579.3:c.364G>A | XP_011539881.1:p.Gly122Ser | |
| XM_024447651.1:c.259G>A | XP_024303419.1:p.Gly87Ser | |
| NM_004565.3:c.451G>A MANE Select | NP_004556.1:p.Gly151Ser |