Linked Data
ClinVar Variation Id:
402208
ClinVar RCV Id:
RCV000454281
dbSNP Id:
rs1060499773
gnomAD v2:
20-34797653-C-T
gnomAD v3:
20-36209731-C-T
gnomAD v4:
20-36209731-C-T
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36209731C>T , CM000682.2:g.36209731C>T | GRCh38 |
| NC_000020.10:g.34797653C>T , CM000682.1:g.34797653C>T | GRCh37 |
| NC_000020.9:g.34261067C>T | NCBI36 |
| NG_031853.2:g.123228C>T | |
| NG_031853.3:g.123228C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338074.7:c.1912C>T MANE Select | ENSP00000337168.2:p.Arg638Cys | |
| ENST00000636016.2:c.4057C>T | ENSP00000489867.2:p.Arg1353Cys | |
| ENST00000202028.9:c.1690C>T | ENSP00000202028.5:p.Arg564Cys | |
| ENST00000338074.6:c.1912C>T | ENSP00000337168.2:p.Arg638Cys | |
| ENST00000373941.5:c.1912C>T | ENSP00000363052.1:p.Arg638Cys | |
| ENST00000373946.7:c.1912C>T | ENSP00000363057.4:p.Arg638Cys | |
| ENST00000373950.6:c.1585C>T | ENSP00000363061.2:p.Arg529Cys | |
| ENST00000441639.5:c.1690C>T | ENSP00000399214.1:p.Arg564Cys | |
| ENST00000451082.5:c.366-2541C>T | ||
| ENST00000454226.5:c.163-2541C>T | ENSP00000388281.1:n.163-2541C>T | |
| ENST00000479336.1:n.574C>T | ||
| ENST00000628415.2:c.1540-2541C>T | ENSP00000487049.2:n.1540-2541C>T | |
| NM_001258329.1:c.1912C>T | NP_001245258.1:p.Arg638Cys | |
| NM_001258330.1:c.1540-2541C>T | NP_001245259.1:n.1540-2541C>T | |
| NM_001258331.1:c.1690C>T | NP_001245260.1:p.Arg564Cys | |
| NM_012156.2:c.1912C>T MANE Select | NP_036288.2:p.Arg638Cys | |
| NM_177996.2:c.1690C>T | NP_818932.1:p.Arg564Cys | |
| XM_011528664.1:c.3949C>T | XP_011526966.1:p.Arg1317Cys | |
| XM_011528665.1:c.3946C>T | XP_011526967.1:p.Arg1316Cys | |
| XM_011528666.1:c.3913C>T | XP_011526968.1:p.Arg1305Cys | |
| XM_011528667.1:c.4024C>T | XP_011526969.1:p.Arg1342Cys | |
| XM_011528668.1:c.3949C>T | XP_011526970.1:p.Arg1317Cys | |
| XM_011528669.1:c.3949C>T | XP_011526971.1:p.Arg1317Cys | |
| XM_011528670.1:c.3949C>T | XP_011526972.1:p.Arg1317Cys | |
| XM_011528671.1:c.3949C>T | XP_011526973.1:p.Arg1317Cys | |
| XM_011528672.1:c.3949C>T | XP_011526974.1:p.Arg1317Cys | |
| XM_011528673.1:c.3949C>T | XP_011526975.1:p.Arg1317Cys | |
| XM_011528674.1:c.3949C>T | XP_011526976.1:p.Arg1317Cys | |
| XM_011528675.1:c.3856C>T | XP_011526977.1:p.Arg1286Cys | |
| XM_011528676.1:c.3949C>T | XP_011526978.1:p.Arg1317Cys | |
| XM_011528677.1:c.3763C>T | XP_011526979.1:p.Arg1255Cys | |
| XM_011528679.1:c.2017C>T | XP_011526981.1:p.Arg673Cys | |
| XM_011528680.1:c.1876C>T | XP_011526982.1:p.Arg626Cys | |
| XM_011528681.1:c.1876C>T | XP_011526983.1:p.Arg626Cys | |
| XM_011528682.1:c.1873C>T | XP_011526984.1:p.Arg625Cys | |
| XM_011528683.1:c.1912C>T | XP_011526985.1:p.Arg638Cys | |
| XM_011528684.1:c.1876C>T | XP_011526986.1:p.Arg626Cys | |
| XM_011528685.1:c.1669-2541C>T | XP_011526987.1:n.1669-2541C>T | |
| XM_011528686.1:c.1633-2541C>T | XP_011526988.1:n.1633-2541C>T | |
| XM_017027711.1:c.3763C>T | XP_016883200.1:p.Arg1255Cys | |
| XM_017027712.2:c.1819C>T | XP_016883201.1:p.Arg607Cys | |
| XM_017027713.2:c.1783C>T | XP_016883202.1:p.Arg595Cys | |
| XM_017027714.2:c.1783C>T | XP_016883203.1:p.Arg595Cys | |
| XM_017027715.1:c.1873C>T | XP_016883204.1:p.Arg625Cys | |
| XM_017027716.1:c.1912C>T | XP_016883205.1:p.Arg638Cys | |
| XM_017027717.2:c.1912C>T | XP_016883206.1:p.Arg638Cys | |
| XM_017027718.2:c.1576-2541C>T | XP_016883207.1:n.1576-2541C>T | |
| XM_017027719.2:c.1540-2541C>T | XP_016883208.1:n.1540-2541C>T | |
| XM_017027720.1:c.1633-2541C>T | XP_016883209.1:n.1633-2541C>T | |
| XM_024451851.1:c.3907C>T | XP_024307619.1:p.Arg1303Cys | |
| XM_024451852.1:c.3763C>T | XP_024307620.1:p.Arg1255Cys | |
| XM_024451853.1:c.3763C>T | XP_024307621.1:p.Arg1255Cys | |
| XM_024451854.1:c.1483-2541C>T | XP_024307622.1:n.1483-2541C>T | |
| NM_001258331.2:c.1690C>T | NP_001245260.1:p.Arg564Cys |