Linked Data
ClinVar Variation Id:
128977
dbSNP Id:
rs184814386
ExAC:
9:140671143 A / G
gnomAD v2:
9-140671143-A-G
gnomAD v3:
9-137776691-A-G
gnomAD v4:
9-137776691-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137776691A>G , CM000671.2:g.137776691A>G | GRCh38 |
| NC_000009.11:g.140671143A>G , CM000671.1:g.140671143A>G | GRCh37 |
| NC_000009.10:g.139790964A>G | NCBI36 |
| NG_011776.1:g.162700A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.1865A>G MANE Select | ENSP00000417980.1:p.Asn622Ser | |
| ENST00000636027.1:c.1751A>G | ENSP00000489961.1:p.Asn584Ser | |
| ENST00000637161.1:c.1772A>G | ENSP00000490328.1:p.Asn591Ser | |
| ENST00000637261.1:c.1905A>G | ENSP00000490815.1:n.1905A>G | |
| ENST00000638071.1:c.1492A>G | ||
| ENST00000640639.1:c.1034A>G | ENSP00000491823.1:p.Asn345Ser | |
| ENST00000371394.6:c.*1600A>G | ENSP00000485945.1:n.*1600A>G | |
| ENST00000460843.5:c.1865A>G | ENSP00000417980.1:p.Asn622Ser | |
| ENST00000462484.5:c.1865A>G | ENSP00000417328.1:p.Asn622Ser | |
| ENST00000462942.3:c.722A>G | ENSP00000436107.1:p.Asn241Ser | |
| ENST00000465566.2:c.413A>G | ENSP00000486261.1:p.Asn138Ser | |
| ENST00000626603.1:n.1758T>C | ||
| NM_001145527.1:c.1865A>G | NP_001138999.1:p.Asn622Ser | |
| NM_024757.4:c.1865A>G | NP_079033.4:p.Asn622Ser | |
| XM_005266105.3:c.1856A>G | XP_005266162.1:p.Asn619Ser | |
| XM_005266110.1:c.1772A>G | XP_005266167.1:p.Asn591Ser | |
| XM_006717288.2:c.1847A>G | XP_006717351.1:p.Asn616Ser | |
| XM_011519021.1:c.1874A>G | XP_011517323.1:p.Asn625Ser | |
| XM_011519022.1:c.1871A>G | XP_011517324.1:p.Asn624Ser | |
| XM_011519023.1:c.1853A>G | XP_011517325.1:p.Asn618Ser | |
| XM_011519024.1:c.1796A>G | XP_011517326.1:p.Asn599Ser | |
| XM_011519025.1:c.1772A>G | XP_011517327.1:p.Asn591Ser | |
| XM_011519026.1:c.1730A>G | XP_011517328.1:p.Asn577Ser | |
| XM_011519027.1:c.1874A>G | XP_011517329.1:p.Asn625Ser | |
| XM_011519028.1:c.1874A>G | XP_011517330.1:p.Asn625Ser | |
| XM_011519029.1:c.296A>G | XP_011517331.1:p.Asn99Ser | |
| XM_011519033.1:c.1709A>G | XP_011517335.1:p.Asn570Ser | |
| NM_001354259.1:c.1772A>G | NP_001341188.1:p.Asn591Ser | |
| NM_001354263.1:c.1844A>G | NP_001341192.1:p.Asn615Ser | |
| XM_005266105.5:c.1856A>G | XP_005266162.1:p.Asn619Ser | |
| XM_011519021.3:c.1874A>G | XP_011517323.1:p.Asn625Ser | |
| XM_011519022.3:c.1871A>G | XP_011517324.1:p.Asn624Ser | |
| XM_011519023.3:c.1853A>G | XP_011517325.1:p.Asn618Ser | |
| XM_011519029.3:c.296A>G | XP_011517331.1:p.Asn99Ser | |
| XM_017015134.1:c.1850A>G | XP_016870623.1:p.Asn617Ser | |
| XM_017015136.2:c.1766A>G | XP_016870625.1:p.Asn589Ser | |
| XM_017015137.1:c.1751A>G | XP_016870626.1:p.Asn584Ser | |
| XM_017015138.1:c.1751A>G | XP_016870627.1:p.Asn584Ser | |
| XM_024447674.1:c.1694A>G | XP_024303442.1:p.Asn565Ser | |
| XM_024447675.1:c.1628A>G | XP_024303443.1:p.Asn543Ser | |
| XM_024447676.1:c.989A>G | XP_024303444.1:p.Asn330Ser | |
| XM_024447677.1:c.989A>G | XP_024303445.1:p.Asn330Ser | |
| XM_024447678.1:c.1772A>G | XP_024303446.1:p.Asn591Ser | |
| XM_024447679.1:c.1772A>G | XP_024303447.1:p.Asn591Ser | |
| XM_024447680.1:c.1607A>G | XP_024303448.1:p.Asn536Ser | |
| NM_024757.5:c.1865A>G MANE Select | NP_079033.4:p.Asn622Ser | |
| NM_001145527.2:c.1865A>G | NP_001138999.1:p.Asn622Ser | |
| NM_001354259.2:c.1772A>G | NP_001341188.1:p.Asn591Ser | |
| NM_001354263.2:c.1844A>G | NP_001341192.1:p.Asn615Ser |