Linked Data
ClinVar Variation Id:
1618682
ClinVar RCV Id:
RCV002094086
dbSNP Id:
rs375663182
ExAC:
9:140671201 G / A
gnomAD v2:
9-140671201-G-A
gnomAD v3:
9-137776749-G-A
gnomAD v4:
9-137776749-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137776749G>A , CM000671.2:g.137776749G>A | GRCh38 |
| NC_000009.11:g.140671201G>A , CM000671.1:g.140671201G>A | GRCh37 |
| NC_000009.10:g.139791022G>A | NCBI36 |
| NG_011776.1:g.162758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.1923G>A MANE Select | ENSP00000417980.1:p.Thr641= | |
| ENST00000636027.1:c.1809G>A | ENSP00000489961.1:p.Thr603= | |
| ENST00000637161.1:c.1830G>A | ENSP00000490328.1:p.Thr610= | |
| ENST00000637261.1:c.1963G>A | ENSP00000490815.1:n.1963G>A | |
| ENST00000638071.1:c.1550G>A | ||
| ENST00000640639.1:c.1092G>A | ENSP00000491823.1:p.Thr364= | |
| ENST00000371394.6:c.*1658G>A | ENSP00000485945.1:n.*1658G>A | |
| ENST00000460843.5:c.1923G>A | ENSP00000417980.1:p.Thr641= | |
| ENST00000462484.5:c.1923G>A | ENSP00000417328.1:p.Thr641= | |
| ENST00000462942.3:c.780G>A | ENSP00000436107.1:p.Thr260= | |
| ENST00000465566.2:c.471G>A | ENSP00000486261.1:p.Thr157= | |
| ENST00000626603.1:n.1700C>T | ||
| NM_001145527.1:c.1923G>A | NP_001138999.1:p.Thr641= | |
| NM_024757.4:c.1923G>A | NP_079033.4:p.Thr641= | |
| XM_005266105.3:c.1914G>A | XP_005266162.1:p.Thr638= | |
| XM_005266110.1:c.1830G>A | XP_005266167.1:p.Thr610= | |
| XM_006717288.2:c.1905G>A | XP_006717351.1:p.Thr635= | |
| XM_011519021.1:c.1932G>A | XP_011517323.1:p.Thr644= | |
| XM_011519022.1:c.1929G>A | XP_011517324.1:p.Thr643= | |
| XM_011519023.1:c.1911G>A | XP_011517325.1:p.Thr637= | |
| XM_011519024.1:c.1854G>A | XP_011517326.1:p.Thr618= | |
| XM_011519025.1:c.1830G>A | XP_011517327.1:p.Thr610= | |
| XM_011519026.1:c.1788G>A | XP_011517328.1:p.Thr596= | |
| XM_011519027.1:c.1932G>A | XP_011517329.1:p.Thr644= | |
| XM_011519028.1:c.1932G>A | XP_011517330.1:p.Thr644= | |
| XM_011519029.1:c.354G>A | XP_011517331.1:p.Thr118= | |
| XM_011519033.1:c.1767G>A | XP_011517335.1:p.Thr589= | |
| NM_001354259.1:c.1830G>A | NP_001341188.1:p.Thr610= | |
| NM_001354263.1:c.1902G>A | NP_001341192.1:p.Thr634= | |
| XM_005266105.5:c.1914G>A | XP_005266162.1:p.Thr638= | |
| XM_011519021.3:c.1932G>A | XP_011517323.1:p.Thr644= | |
| XM_011519022.3:c.1929G>A | XP_011517324.1:p.Thr643= | |
| XM_011519023.3:c.1911G>A | XP_011517325.1:p.Thr637= | |
| XM_011519029.3:c.354G>A | XP_011517331.1:p.Thr118= | |
| XM_017015134.1:c.1908G>A | XP_016870623.1:p.Thr636= | |
| XM_017015136.2:c.1824G>A | XP_016870625.1:p.Thr608= | |
| XM_017015137.1:c.1809G>A | XP_016870626.1:p.Thr603= | |
| XM_017015138.1:c.1809G>A | XP_016870627.1:p.Thr603= | |
| XM_024447674.1:c.1752G>A | XP_024303442.1:p.Thr584= | |
| XM_024447675.1:c.1686G>A | XP_024303443.1:p.Thr562= | |
| XM_024447676.1:c.1047G>A | XP_024303444.1:p.Thr349= | |
| XM_024447677.1:c.1047G>A | XP_024303445.1:p.Thr349= | |
| XM_024447678.1:c.1830G>A | XP_024303446.1:p.Thr610= | |
| XM_024447679.1:c.1830G>A | XP_024303447.1:p.Thr610= | |
| XM_024447680.1:c.1665G>A | XP_024303448.1:p.Thr555= | |
| NM_024757.5:c.1923G>A MANE Select | NP_079033.4:p.Thr641= | |
| NM_001145527.2:c.1923G>A | NP_001138999.1:p.Thr641= | |
| NM_001354259.2:c.1830G>A | NP_001341188.1:p.Thr610= | |
| NM_001354263.2:c.1902G>A | NP_001341192.1:p.Thr634= |