Linked Data
ClinVar Variation Id:
286384
dbSNP Id:
rs139206060
ExAC:
9:140671225 G / A
gnomAD v2:
9-140671225-G-A
gnomAD v3:
9-137776773-G-A
gnomAD v4:
9-137776773-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137776773G>A , CM000671.2:g.137776773G>A | GRCh38 |
| NC_000009.11:g.140671225G>A , CM000671.1:g.140671225G>A | GRCh37 |
| NC_000009.10:g.139791046G>A | NCBI36 |
| NG_011776.1:g.162782G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.1947G>A MANE Select | ENSP00000417980.1:p.Ser649= | |
| ENST00000636027.1:c.1833G>A | ENSP00000489961.1:p.Ser611= | |
| ENST00000637161.1:c.1854G>A | ENSP00000490328.1:p.Ser618= | |
| ENST00000637261.1:c.1987G>A | ENSP00000490815.1:n.1987G>A | |
| ENST00000638071.1:c.1574G>A | ||
| ENST00000640639.1:c.1116G>A | ENSP00000491823.1:p.Ser372= | |
| ENST00000371394.6:c.*1682G>A | ENSP00000485945.1:n.*1682G>A | |
| ENST00000460843.5:c.1947G>A | ENSP00000417980.1:p.Ser649= | |
| ENST00000462484.5:c.1947G>A | ENSP00000417328.1:p.Ser649= | |
| ENST00000462942.3:c.804G>A | ENSP00000436107.1:p.Ser268= | |
| ENST00000465566.2:c.495G>A | ENSP00000486261.1:p.Ser165= | |
| ENST00000626603.1:n.1676C>T | ||
| NM_001145527.1:c.1947G>A | NP_001138999.1:p.Ser649= | |
| NM_024757.4:c.1947G>A | NP_079033.4:p.Ser649= | |
| XM_005266105.3:c.1938G>A | XP_005266162.1:p.Ser646= | |
| XM_005266110.1:c.1854G>A | XP_005266167.1:p.Ser618= | |
| XM_006717288.2:c.1929G>A | XP_006717351.1:p.Ser643= | |
| XM_011519021.1:c.1956G>A | XP_011517323.1:p.Ser652= | |
| XM_011519022.1:c.1953G>A | XP_011517324.1:p.Ser651= | |
| XM_011519023.1:c.1935G>A | XP_011517325.1:p.Ser645= | |
| XM_011519024.1:c.1878G>A | XP_011517326.1:p.Ser626= | |
| XM_011519025.1:c.1854G>A | XP_011517327.1:p.Ser618= | |
| XM_011519026.1:c.1812G>A | XP_011517328.1:p.Ser604= | |
| XM_011519027.1:c.1956G>A | XP_011517329.1:p.Ser652= | |
| XM_011519028.1:c.1956G>A | XP_011517330.1:p.Ser652= | |
| XM_011519029.1:c.378G>A | XP_011517331.1:p.Ser126= | |
| XM_011519033.1:c.1791G>A | XP_011517335.1:p.Ser597= | |
| NM_001354259.1:c.1854G>A | NP_001341188.1:p.Ser618= | |
| NM_001354263.1:c.1926G>A | NP_001341192.1:p.Ser642= | |
| XM_005266105.5:c.1938G>A | XP_005266162.1:p.Ser646= | |
| XM_011519021.3:c.1956G>A | XP_011517323.1:p.Ser652= | |
| XM_011519022.3:c.1953G>A | XP_011517324.1:p.Ser651= | |
| XM_011519023.3:c.1935G>A | XP_011517325.1:p.Ser645= | |
| XM_011519029.3:c.378G>A | XP_011517331.1:p.Ser126= | |
| XM_017015134.1:c.1932G>A | XP_016870623.1:p.Ser644= | |
| XM_017015136.2:c.1848G>A | XP_016870625.1:p.Ser616= | |
| XM_017015137.1:c.1833G>A | XP_016870626.1:p.Ser611= | |
| XM_017015138.1:c.1833G>A | XP_016870627.1:p.Ser611= | |
| XM_024447674.1:c.1776G>A | XP_024303442.1:p.Ser592= | |
| XM_024447675.1:c.1710G>A | XP_024303443.1:p.Ser570= | |
| XM_024447676.1:c.1071G>A | XP_024303444.1:p.Ser357= | |
| XM_024447677.1:c.1071G>A | XP_024303445.1:p.Ser357= | |
| XM_024447678.1:c.1854G>A | XP_024303446.1:p.Ser618= | |
| XM_024447679.1:c.1854G>A | XP_024303447.1:p.Ser618= | |
| XM_024447680.1:c.1689G>A | XP_024303448.1:p.Ser563= | |
| NM_024757.5:c.1947G>A MANE Select | NP_079033.4:p.Ser649= | |
| NM_001145527.2:c.1947G>A | NP_001138999.1:p.Ser649= | |
| NM_001354259.2:c.1854G>A | NP_001341188.1:p.Ser618= | |
| NM_001354263.2:c.1926G>A | NP_001341192.1:p.Ser642= |