Linked Data
ClinVar Variation Id:
192320
dbSNP Id:
rs148812376
ExAC:
16:2149956 G / A
gnomAD v2:
16-2149956-G-A
gnomAD v3:
16-2099955-G-A
gnomAD v4:
16-2099955-G-A
PubMed:
PMID:20301424
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2099955G>A , CM000678.2:g.2099955G>A | GRCh38 |
| NC_000016.9:g.2149956G>A , CM000678.1:g.2149956G>A | GRCh37 |
| NC_000016.8:g.2089957G>A | NCBI36 |
| NG_008617.1:g.43266C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.9829C>T MANE Select | ENSP00000262304.4:p.Arg3277Cys | |
| ENST00000262304.8:c.9829C>T | ENSP00000262304.4:p.Arg3277Cys | |
| ENST00000415938.7:n.2908C>T | ||
| ENST00000423118.5:c.9829C>T | ENSP00000399501.1:p.Arg3277Cys | |
| ENST00000469851.1:n.638C>T | ||
| ENST00000471603.6:n.1473C>T | ||
| ENST00000480227.5:n.1566C>T | ||
| ENST00000483731.5:n.3715C>T | ||
| ENST00000486339.6:n.3965C>T | ||
| ENST00000487932.5:c.4391C>T | ENSP00000457132.1:n.4391C>T | |
| ENST00000496574.6:n.4065C>T | ||
| ENST00000562297.5:n.1562C>T | ||
| ENST00000566905.5:n.319C>T | ||
| ENST00000567946.1:c.1431C>T | ||
| ENST00000570193.5:n.273C>T | ||
| ENST00000570253.5:n.252C>T | ||
| NM_000296.3:c.9829C>T | NP_000287.3:p.Arg3277Cys | |
| NM_001009944.2:c.9829C>T | NP_001009944.2:p.Arg3277Cys | |
| XM_005255370.2:c.6784C>T | XP_005255427.1:p.Arg2262Cys | |
| XM_011522525.1:c.9907C>T | XP_011520827.1:p.Arg3303Cys | |
| XM_011522526.1:c.9907C>T | XP_011520828.1:p.Arg3303Cys | |
| XM_011522527.1:c.9889C>T | XP_011520829.1:p.Arg3297Cys | |
| XM_011522528.1:c.9883C>T | XP_011520830.1:p.Arg3295Cys | |
| XM_011522529.1:c.9883C>T | XP_011520831.1:p.Arg3295Cys | |
| XM_011522530.1:c.9853C>T | XP_011520832.1:p.Arg3285Cys | |
| XM_011522531.1:c.9835C>T | XP_011520833.1:p.Arg3279Cys | |
| XM_011522532.1:c.9781C>T | XP_011520834.1:p.Arg3261Cys | |
| XM_011522533.1:c.9700C>T | XP_011520835.1:p.Arg3234Cys | |
| XM_011522534.1:c.9643C>T | XP_011520836.1:p.Arg3215Cys | |
| XM_011522535.1:c.7729C>T | XP_011520837.1:p.Arg2577Cys | |
| XM_011522536.1:c.9907C>T | XP_011520838.1:p.Arg3303Cys | |
| XM_011522537.1:c.6907C>T | XP_011520839.1:p.Arg2303Cys | |
| XR_932867.1:n.9922C>T | ||
| XR_932868.1:n.9922C>T | ||
| XR_932869.1:n.9922C>T | ||
| XR_932870.1:n.9922C>T | ||
| XM_005255370.3:c.6784C>T | XP_005255427.1:p.Arg2262Cys | |
| XM_011522528.3:c.9883C>T | XP_011520830.1:p.Arg3295Cys | |
| XM_011522529.2:c.9883C>T | XP_011520831.1:p.Arg3295Cys | |
| XM_011522537.2:c.6907C>T | XP_011520839.1:p.Arg2303Cys | |
| XM_024450298.1:c.9949C>T | XP_024306066.1:p.Arg3317Cys | |
| XM_024450299.1:c.9877C>T | XP_024306067.1:p.Arg3293Cys | |
| XM_024450300.1:c.9739C>T | XP_024306068.1:p.Arg3247Cys | |
| XM_024450301.1:c.7825C>T | XP_024306069.1:p.Arg2609Cys | |
| NM_000296.4:c.9829C>T | NP_000287.4:p.Arg3277Cys | |
| NM_001009944.3:c.9829C>T MANE Select | NP_001009944.3:p.Arg3277Cys |