Linked Data
ClinVar Variation Id:
402188
ClinVar RCV Id:
RCV000454209
dbSNP Id:
rs372628779
gnomAD v2:
9-732609-C-G
gnomAD v4:
9-732609-C-G
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.732609C>G , CM000671.2:g.732609C>G | GRCh38 |
| NC_000009.11:g.732609C>G , CM000671.1:g.732609C>G | GRCh37 |
| NC_000009.10:g.722609C>G | NCBI36 |
| NG_016331.2:g.267316C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382286.3:c.306C>G | ENSP00000371723.4:p.Ile102Met | |
| ENST00000382289.7:c.576C>G | ENSP00000371726.3:p.Ile192Met | |
| ENST00000619269.5:c.3237C>G | ENSP00000477725.2:p.Ile1079Met | |
| ENST00000685380.1:c.2565C>G | ENSP00000508606.1:p.Ile855Met | |
| ENST00000685481.1:n.3589C>G | ||
| ENST00000685590.1:c.2477+1343C>G | ENSP00000510487.1:n.2477+1343C>G | |
| ENST00000685947.1:c.3237C>G | ENSP00000508833.1:p.Ile1079Met | |
| ENST00000686846.1:n.4875C>G | ||
| ENST00000687662.1:c.2709C>G | ENSP00000509160.1:p.Ile903Met | |
| ENST00000687796.1:c.2763C>G | ENSP00000510058.1:p.Ile921Met | |
| ENST00000688039.1:c.*134+1205C>G | ENSP00000510133.1:n.*134+1205C>G | |
| ENST00000688567.1:n.3764C>G | ||
| ENST00000689214.1:c.*759C>G | ENSP00000508779.1:n.*759C>G | |
| ENST00000689779.1:c.3237C>G | ENSP00000508451.1:p.Ile1079Met | |
| ENST00000689926.1:c.3005+1343C>G | ENSP00000510088.1:n.3005+1343C>G | |
| ENST00000690348.1:c.2763C>G | ENSP00000509448.1:p.Ile921Met | |
| ENST00000690372.1:c.2763C>G | ENSP00000509433.1:p.Ile921Met | |
| ENST00000691319.1:c.3005+1343C>G | ENSP00000509034.1:n.3005+1343C>G | |
| ENST00000691645.1:c.2369-2139C>G | ENSP00000508795.1:n.2369-2139C>G | |
| ENST00000692130.1:n.4484C>G | ||
| ENST00000692345.1:c.2763C>G | ENSP00000508925.1:p.Ile921Met | |
| ENST00000692757.1:c.2531+1343C>G | ENSP00000510316.1:n.2531+1343C>G | |
| ENST00000693021.1:c.2477+1343C>G | ENSP00000509347.1:n.2477+1343C>G | |
| ENST00000693088.1:c.2763C>G | ENSP00000510671.1:p.Ile921Met | |
| ENST00000693143.1:c.2531+1343C>G | ENSP00000510515.1:n.2531+1343C>G | |
| ENST00000693656.1:n.3335C>G | ||
| ENST00000382297.7:c.3237C>G MANE Select | ENSP00000371734.2:p.Ile1079Met | |
| ENST00000674102.1:c.3237C>G | ENSP00000501167.1:p.Ile1079Met | |
| ENST00000354485.5:n.5392C>G | ||
| ENST00000382289.6:c.168C>G | ENSP00000371726.2:p.Ile56Met | |
| ENST00000382293.7:c.2763C>G | ENSP00000371730.3:p.Ile921Met | |
| ENST00000382297.6:c.3237C>G | ENSP00000371734.2:p.Ile1079Met | |
| ENST00000382303.5:c.3237C>G | ENSP00000371740.1:p.Ile1079Met | |
| ENST00000489369.5:n.3373C>G | ||
| ENST00000619269.4:c.3237C>G | ENSP00000477725.1:p.Ile1079Met | |
| NM_001256876.1:c.3237C>G | NP_001243805.1:p.Ile1079Met | |
| NM_001256877.1:c.3237C>G | NP_001243806.1:p.Ile1079Met | |
| NM_015158.3:c.3237C>G | NP_055973.2:p.Ile1079Met | |
| NM_153186.4:c.2763C>G | NP_694856.1:p.Ile921Met | |
| XM_005251411.2:c.3237C>G | XP_005251468.1:p.Ile1079Met | |
| XM_005251414.2:c.2763C>G | XP_005251471.1:p.Ile921Met | |
| XM_005251415.2:c.2763C>G | XP_005251472.1:p.Ile921Met | |
| XM_005251416.2:c.2763C>G | XP_005251473.1:p.Ile921Met | |
| XM_005251417.2:c.2763C>G | XP_005251474.1:p.Ile921Met | |
| XM_005251418.2:c.2763C>G | XP_005251475.1:p.Ile921Met | |
| XM_005251419.2:c.2763C>G | XP_005251476.1:p.Ile921Met | |
| XM_006716743.2:c.3237C>G | XP_006716806.1:p.Ile1079Met | |
| XM_011517817.1:c.3237C>G | XP_011516119.1:p.Ile1079Met | |
| XM_011517818.1:c.3237C>G | XP_011516120.1:p.Ile1079Met | |
| XM_011517819.1:c.3237C>G | XP_011516121.1:p.Ile1079Met | |
| XM_011517820.1:c.3237C>G | XP_011516122.1:p.Ile1079Met | |
| XM_011517821.1:c.3237C>G | XP_011516123.1:p.Ile1079Met | |
| XM_011517822.1:c.3183C>G | XP_011516124.1:p.Ile1061Met | |
| XM_011517823.1:c.3183C>G | XP_011516125.1:p.Ile1061Met | |
| XM_011517824.1:c.3005+1343C>G | XP_011516126.1:n.3005+1343C>G | |
| XM_011517825.1:c.2763C>G | XP_011516127.1:p.Ile921Met | |
| XM_011517826.1:c.3237C>G | XP_011516128.1:p.Ile1079Met | |
| NM_001256876.2:c.3237C>G | NP_001243805.1:p.Ile1079Met | |
| NM_001256877.2:c.3237C>G | NP_001243806.1:p.Ile1079Met | |
| NM_001354331.1:c.3005+1343C>G | NP_001341260.1:n.3005+1343C>G | |
| NM_001354332.1:c.3183C>G | NP_001341261.1:p.Ile1061Met | |
| NM_001354333.1:c.2763C>G | NP_001341262.1:p.Ile921Met | |
| NM_001354334.1:c.3237C>G | NP_001341263.1:p.Ile1079Met | |
| NM_001354335.1:c.2763C>G | NP_001341264.1:p.Ile921Met | |
| NM_001354336.1:c.2477+1343C>G | NP_001341265.1:n.2477+1343C>G | |
| NM_001354337.1:c.2763C>G | NP_001341266.1:p.Ile921Met | |
| NM_001354338.1:c.2709C>G | NP_001341267.1:p.Ile903Met | |
| NM_001354339.1:c.2531+1343C>G | NP_001341268.1:n.2531+1343C>G | |
| NM_001354340.1:c.2709C>G | NP_001341269.1:p.Ile903Met | |
| NM_001354341.1:c.2763C>G | NP_001341270.1:p.Ile921Met | |
| NM_001354342.1:c.2531+1343C>G | NP_001341271.1:n.2531+1343C>G | |
| NM_001354343.1:c.2531+1343C>G | NP_001341272.1:n.2531+1343C>G | |
| NM_001354344.1:c.2709C>G | NP_001341273.1:p.Ile903Met | |
| NM_015158.4:c.3237C>G | NP_055973.2:p.Ile1079Met | |
| NM_153186.5:c.2763C>G | NP_694856.1:p.Ile921Met | |
| NR_148869.1:n.3543+1343C>G | ||
| XM_017014517.2:c.3183C>G | XP_016870006.1:p.Ile1061Met | |
| XM_017014522.2:c.3005+1343C>G | XP_016870011.1:n.3005+1343C>G | |
| XM_017014525.2:c.2951+1343C>G | XP_016870014.1:n.2951+1343C>G | |
| XM_024447460.1:c.3237C>G | XP_024303228.1:p.Ile1079Met | |
| XM_024447461.1:c.3237C>G | XP_024303229.1:p.Ile1079Met | |
| XM_024447462.1:c.3237C>G | XP_024303230.1:p.Ile1079Met | |
| XM_024447463.1:c.3237C>G | XP_024303231.1:p.Ile1079Met | |
| XM_024447464.1:c.3237C>G | XP_024303232.1:p.Ile1079Met | |
| XM_024447465.1:c.3237C>G | XP_024303233.1:p.Ile1079Met | |
| XM_024447466.1:c.3237C>G | XP_024303234.1:p.Ile1079Met | |
| XM_024447467.1:c.3237C>G | XP_024303235.1:p.Ile1079Met | |
| XM_024447468.1:c.3237C>G | XP_024303236.1:p.Ile1079Met | |
| XM_024447469.1:c.3005+1343C>G | XP_024303237.1:n.3005+1343C>G | |
| XM_024447470.1:c.2763C>G | XP_024303238.1:p.Ile921Met | |
| XM_024447471.1:c.2709C>G | XP_024303239.1:p.Ile903Met | |
| XR_002956771.1:n.4069C>G | ||
| NM_015158.5:c.3237C>G MANE Select | NP_055973.2:p.Ile1079Met | |
| NM_001256876.3:c.3237C>G | NP_001243805.1:p.Ile1079Met | |
| NM_001256877.3:c.3237C>G | NP_001243806.1:p.Ile1079Met | |
| NM_001354331.2:c.3005+1343C>G | NP_001341260.1:n.3005+1343C>G | |
| NM_001354332.2:c.3183C>G | NP_001341261.1:p.Ile1061Met | |
| NM_001354333.2:c.2763C>G | NP_001341262.1:p.Ile921Met | |
| NM_001354334.2:c.3237C>G | NP_001341263.1:p.Ile1079Met | |
| NM_001354335.2:c.2763C>G | NP_001341264.1:p.Ile921Met | |
| NM_001354336.2:c.2477+1343C>G | NP_001341265.1:n.2477+1343C>G | |
| NM_001354337.2:c.2763C>G | NP_001341266.1:p.Ile921Met | |
| NM_001354338.2:c.2709C>G | NP_001341267.1:p.Ile903Met | |
| NM_001354339.2:c.2531+1343C>G | NP_001341268.1:n.2531+1343C>G | |
| NM_001354340.2:c.2709C>G | NP_001341269.1:p.Ile903Met | |
| NM_001354341.2:c.2763C>G | NP_001341270.1:p.Ile921Met | |
| NM_001354342.2:c.2531+1343C>G | NP_001341271.1:n.2531+1343C>G | |
| NM_001354343.2:c.2531+1343C>G | NP_001341272.1:n.2531+1343C>G | |
| NM_001354344.2:c.2709C>G | NP_001341273.1:p.Ile903Met | |
| NM_153186.6:c.2763C>G | NP_694856.1:p.Ile921Met | |
| NR_148869.2:n.3167+1343C>G |