Linked Data
ClinVar Variation Id:
403016
ClinVar RCV Id:
RCV000455189
dbSNP Id:
rs12001918
ExAC:
9:86518796 T / C
gnomAD v2:
9-86518796-T-C
gnomAD v3:
9-83903881-T-C
gnomAD v4:
9-83903881-T-C
COSMIC:
COSM3764033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.83903881T>C , CM000671.2:g.83903881T>C | GRCh38 |
| NC_000009.11:g.86518796T>C , CM000671.1:g.86518796T>C | GRCh37 |
| NC_000009.10:g.85708616T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297814.7:c.637A>G MANE Select | ENSP00000297814.2:p.Ile213Val | |
| ENST00000297814.6:c.637A>G | ENSP00000297814.2:p.Ile213Val | |
| ENST00000334204.6:c.637A>G | ENSP00000333928.2:p.Ile213Val | |
| ENST00000413982.5:c.637A>G | ENSP00000401688.1:p.Ile213Val | |
| ENST00000495062.2:c.500-4077A>G | ENSP00000431390.1:n.500-4077A>G | |
| NM_001271927.1:c.637A>G | NP_001258856.1:p.Ile213Val | |
| NM_001271928.1:c.637A>G | NP_001258857.1:p.Ile213Val | |
| NM_017576.2:c.637A>G | NP_060046.1:p.Ile213Val | |
| XM_011518848.1:c.637A>G | XP_011517150.1:p.Ile213Val | |
| XM_011518849.1:c.637A>G | XP_011517151.1:p.Ile213Val | |
| XM_011518850.1:c.637A>G | XP_011517152.1:p.Ile213Val | |
| XM_011518851.1:c.637A>G | XP_011517153.1:p.Ile213Val | |
| XM_011518852.1:c.637A>G | XP_011517154.1:p.Ile213Val | |
| XM_011518853.1:c.637A>G | XP_011517155.1:p.Ile213Val | |
| XM_011518854.1:c.637A>G | XP_011517156.1:p.Ile213Val | |
| XM_011518855.1:c.637A>G | XP_011517157.1:p.Ile213Val | |
| XM_011518856.1:c.637A>G | XP_011517158.1:p.Ile213Val | |
| XM_011518857.1:c.-64-374A>G | XP_011517159.1:n.-64-374A>G | |
| XM_011518858.1:c.19-4077A>G | XP_011517160.1:n.19-4077A>G | |
| XR_929825.1:n.900A>G | ||
| XR_929826.1:n.900A>G | ||
| XR_929827.1:n.900A>G | ||
| NM_001271927.2:c.637A>G | NP_001258856.1:p.Ile213Val | |
| NM_001271928.2:c.637A>G | NP_001258857.1:p.Ile213Val | |
| NM_001354069.1:c.637A>G | NP_001340998.1:p.Ile213Val | |
| NM_001354070.1:c.19-4077A>G | NP_001340999.1:n.19-4077A>G | |
| NM_001354071.1:c.19-4077A>G | NP_001341000.1:n.19-4077A>G | |
| NM_017576.3:c.637A>G | NP_060046.1:p.Ile213Val | |
| XM_011518848.3:c.637A>G | XP_011517150.1:p.Ile213Val | |
| XM_011518849.2:c.637A>G | XP_011517151.1:p.Ile213Val | |
| XM_011518850.2:c.637A>G | XP_011517152.1:p.Ile213Val | |
| XM_011518854.2:c.637A>G | XP_011517156.1:p.Ile213Val | |
| XM_011518856.2:c.637A>G | XP_011517158.1:p.Ile213Val | |
| XM_011518857.2:c.-64-374A>G | XP_011517159.1:n.-64-374A>G | |
| XM_017014900.1:c.637A>G | XP_016870389.1:p.Ile213Val | |
| XM_017014901.2:c.637A>G | XP_016870390.1:p.Ile213Val | |
| XM_017014902.1:c.637A>G | XP_016870391.1:p.Ile213Val | |
| XM_017014903.1:c.637A>G | XP_016870392.1:p.Ile213Val | |
| XM_017014904.1:c.637A>G | XP_016870393.1:p.Ile213Val | |
| XM_017014905.1:c.637A>G | XP_016870394.1:p.Ile213Val | |
| XM_017014906.1:c.637A>G | XP_016870395.1:p.Ile213Val | |
| XM_017014907.1:c.637A>G | XP_016870396.1:p.Ile213Val | |
| XM_017014908.1:c.637A>G | XP_016870397.1:p.Ile213Val | |
| XM_017014909.1:c.181A>G | XP_016870398.1:p.Ile61Val | |
| XM_017014911.2:c.-64-374A>G | XP_016870400.1:n.-64-374A>G | |
| XM_017014912.2:c.19-4077A>G | XP_016870401.1:n.19-4077A>G | |
| XM_017014914.2:c.637A>G | XP_016870403.1:p.Ile213Val | |
| XM_017014916.1:c.-1074-374A>G | XP_016870405.1:n.-1074-374A>G | |
| XM_024447608.1:c.637A>G | XP_024303376.1:p.Ile213Val | |
| XM_024447609.1:c.19-4077A>G | XP_024303377.1:n.19-4077A>G | |
| XM_024447610.1:c.19-4077A>G | XP_024303378.1:n.19-4077A>G | |
| XR_002956796.1:n.1039A>G | ||
| NM_017576.4:c.637A>G MANE Select | NP_060046.1:p.Ile213Val | |
| NM_001354069.2:c.637A>G | NP_001340998.1:p.Ile213Val | |
| NM_001354070.2:c.19-4077A>G | NP_001340999.1:n.19-4077A>G | |
| NM_001354071.2:c.19-4077A>G | NP_001341000.1:n.19-4077A>G | |
| NM_001271927.3:c.637A>G | NP_001258856.1:p.Ile213Val | |
| NM_001271928.3:c.637A>G | NP_001258857.1:p.Ile213Val |