Linked Data
ClinVar Variation Id:
133651
dbSNP Id:
rs587778087
ExAC:
X:76938047 T / C
gnomAD v2:
X-76938047-T-C
gnomAD v3:
X-77682555-T-C
gnomAD v4:
X-77682555-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77682555T>C , CM000685.2:g.77682555T>C | GRCh38 |
| NC_000023.10:g.76938047T>C , CM000685.1:g.76938047T>C | GRCh37 |
| NC_000023.9:g.76824703T>C | NCBI36 |
| NG_008838.2:g.108667A>G | |
| NG_008838.3:g.108715A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.2701A>G MANE Select | ENSP00000362441.4:p.Ile901Val | |
| ENST00000373344.9:c.2701A>G | ENSP00000362441.4:p.Ile901Val | |
| ENST00000395603.7:c.2587A>G | ENSP00000378967.3:p.Ile863Val | |
| ENST00000480283.5:c.*2329A>G | ENSP00000480196.1:n.*2329A>G | |
| ENST00000624032.3:c.2614A>G | ENSP00000485253.1:p.Ile872Val | |
| ENST00000624166.3:c.2497A>G | ENSP00000485103.1:p.Ile833Val | |
| NM_000489.4:c.2701A>G | NP_000480.3:p.Ile901Val | |
| NM_138270.3:c.2587A>G | NP_612114.2:p.Ile863Val | |
| XM_005262153.3:c.2698A>G | XP_005262210.2:p.Ile900Val | |
| XM_005262154.3:c.2614A>G | XP_005262211.2:p.Ile872Val | |
| XM_005262155.3:c.2584A>G | XP_005262212.2:p.Ile862Val | |
| XM_005262156.3:c.2536A>G | XP_005262213.2:p.Ile846Val | |
| XM_005262157.3:c.2497A>G | XP_005262214.2:p.Ile833Val | |
| XM_006724666.2:c.2584A>G | XP_006724729.1:p.Ile862Val | |
| XM_006724667.2:c.2422A>G | XP_006724730.1:p.Ile808Val | |
| XM_006724668.2:c.2701A>G | XP_006724731.1:p.Ile901Val | |
| XR_938400.1:n.2969A>G | ||
| NM_000489.5:c.2701A>G | NP_000480.3:p.Ile901Val | |
| XM_005262153.5:c.2698A>G | XP_005262210.2:p.Ile900Val | |
| XM_005262154.5:c.2614A>G | XP_005262211.2:p.Ile872Val | |
| XM_005262155.4:c.2584A>G | XP_005262212.2:p.Ile862Val | |
| XM_005262156.4:c.2536A>G | XP_005262213.2:p.Ile846Val | |
| XM_005262157.5:c.2497A>G | XP_005262214.2:p.Ile833Val | |
| XM_006724666.4:c.2584A>G | XP_006724729.1:p.Ile862Val | |
| XM_006724667.3:c.2422A>G | XP_006724730.1:p.Ile808Val | |
| XM_006724668.3:c.2701A>G | XP_006724731.1:p.Ile901Val | |
| XM_017029601.2:c.2611A>G | XP_016885090.1:p.Ile871Val | |
| XM_017029602.1:c.2581A>G | XP_016885091.1:p.Ile861Val | |
| XM_017029603.1:c.2533A>G | XP_016885092.1:p.Ile845Val | |
| XM_017029604.2:c.2500A>G | XP_016885093.1:p.Ile834Val | |
| XM_017029605.1:c.2497A>G | XP_016885094.1:p.Ile833Val | |
| XM_017029606.2:c.2470A>G | XP_016885095.1:p.Ile824Val | |
| XM_017029607.2:c.2467A>G | XP_016885096.1:p.Ile823Val | |
| XM_017029608.2:c.2419A>G | XP_016885097.1:p.Ile807Val | |
| XM_017029609.1:c.2383A>G | XP_016885098.1:p.Ile795Val | |
| XM_017029610.1:c.2380A>G | XP_016885099.1:p.Ile794Val | |
| XM_017029611.1:c.2335A>G | XP_016885100.1:p.Ile779Val | |
| XR_001755700.2:n.2926A>G | ||
| NM_138270.4:c.2587A>G | NP_612114.2:p.Ile863Val | |
| NM_000489.6:c.2701A>G MANE Select | NP_000480.3:p.Ile901Val | |
| NM_138270.5:c.2587A>G | NP_612114.2:p.Ile863Val |