Linked Data
ClinVar Variation Id:
96146
dbSNP Id:
rs398124403
ExAC:
9:140672443 G / A
gnomAD v2:
9-140672443-G-A
gnomAD v3:
9-137777991-G-A
gnomAD v4:
9-137777991-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137777991G>A , CM000671.2:g.137777991G>A | GRCh38 |
| NC_000009.11:g.140672443G>A , CM000671.1:g.140672443G>A | GRCh37 |
| NC_000009.10:g.139792264G>A | NCBI36 |
| NG_011776.1:g.164000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2128G>A MANE Select | ENSP00000417980.1:p.Gly710Ser | |
| ENST00000636027.1:c.2014G>A | ENSP00000489961.1:p.Gly672Ser | |
| ENST00000637161.1:c.2035G>A | ENSP00000490328.1:p.Gly679Ser | |
| ENST00000637261.1:c.2168G>A | ENSP00000490815.1:n.2168G>A | |
| ENST00000637891.1:c.22G>A | ENSP00000490907.1:p.Gly8Ser | |
| ENST00000371394.6:c.*1863G>A | ENSP00000485945.1:n.*1863G>A | |
| ENST00000460843.5:c.2128G>A | ENSP00000417980.1:p.Gly710Ser | |
| ENST00000462484.5:c.2128G>A | ENSP00000417328.1:p.Gly710Ser | |
| ENST00000462942.3:c.985G>A | ENSP00000436107.1:p.Gly329Ser | |
| ENST00000626603.1:n.1061-603C>T | ||
| NM_001145527.1:c.2128G>A | NP_001138999.1:p.Gly710Ser | |
| NM_024757.4:c.2128G>A | NP_079033.4:p.Gly710Ser | |
| XM_005266105.3:c.2119G>A | XP_005266162.1:p.Gly707Ser | |
| XM_005266110.1:c.2035G>A | XP_005266167.1:p.Gly679Ser | |
| XM_006717288.2:c.2110G>A | XP_006717351.1:p.Gly704Ser | |
| XM_011519021.1:c.2137G>A | XP_011517323.1:p.Gly713Ser | |
| XM_011519022.1:c.2134G>A | XP_011517324.1:p.Gly712Ser | |
| XM_011519023.1:c.2116G>A | XP_011517325.1:p.Gly706Ser | |
| XM_011519024.1:c.2059G>A | XP_011517326.1:p.Gly687Ser | |
| XM_011519025.1:c.2035G>A | XP_011517327.1:p.Gly679Ser | |
| XM_011519026.1:c.1993G>A | XP_011517328.1:p.Gly665Ser | |
| XM_011519027.1:c.2137G>A | XP_011517329.1:p.Gly713Ser | |
| XM_011519028.1:c.2137G>A | XP_011517330.1:p.Gly713Ser | |
| XM_011519029.1:c.559G>A | XP_011517331.1:p.Gly187Ser | |
| XM_011519033.1:c.1972G>A | XP_011517335.1:p.Gly658Ser | |
| NM_001354259.1:c.2035G>A | NP_001341188.1:p.Gly679Ser | |
| NM_001354263.1:c.2107G>A | NP_001341192.1:p.Gly703Ser | |
| XM_005266105.5:c.2119G>A | XP_005266162.1:p.Gly707Ser | |
| XM_011519021.3:c.2137G>A | XP_011517323.1:p.Gly713Ser | |
| XM_011519022.3:c.2134G>A | XP_011517324.1:p.Gly712Ser | |
| XM_011519023.3:c.2116G>A | XP_011517325.1:p.Gly706Ser | |
| XM_011519029.3:c.559G>A | XP_011517331.1:p.Gly187Ser | |
| XM_017015134.1:c.2113G>A | XP_016870623.1:p.Gly705Ser | |
| XM_017015136.2:c.2029G>A | XP_016870625.1:p.Gly677Ser | |
| XM_017015137.1:c.2014G>A | XP_016870626.1:p.Gly672Ser | |
| XM_017015138.1:c.2014G>A | XP_016870627.1:p.Gly672Ser | |
| XM_024447674.1:c.1957G>A | XP_024303442.1:p.Gly653Ser | |
| XM_024447675.1:c.1891G>A | XP_024303443.1:p.Gly631Ser | |
| XM_024447676.1:c.1252G>A | XP_024303444.1:p.Gly418Ser | |
| XM_024447677.1:c.1252G>A | XP_024303445.1:p.Gly418Ser | |
| XM_024447678.1:c.2035G>A | XP_024303446.1:p.Gly679Ser | |
| XM_024447679.1:c.2035G>A | XP_024303447.1:p.Gly679Ser | |
| XM_024447680.1:c.1870G>A | XP_024303448.1:p.Gly624Ser | |
| NM_024757.5:c.2128G>A MANE Select | NP_079033.4:p.Gly710Ser | |
| NM_001145527.2:c.2128G>A | NP_001138999.1:p.Gly710Ser | |
| NM_001354259.2:c.2035G>A | NP_001341188.1:p.Gly679Ser | |
| NM_001354263.2:c.2107G>A | NP_001341192.1:p.Gly703Ser |