Linked Data
ClinVar Variation Id:
550442
ClinVar RCV Id:
RCV001275110
RCV000665189
RCV003465439
RCV002279480
RCV000763303
RCV001050932
RCV004026080
dbSNP Id:
rs371243939
ExAC:
1:21902399 C / T
gnomAD v2:
1-21902399-C-T
gnomAD v3:
1-21575906-C-T
gnomAD v4:
1-21575906-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21575906C>T , CM000663.2:g.21575906C>T | GRCh38 |
| NC_000001.10:g.21902399C>T , CM000663.1:g.21902399C>T | GRCh37 |
| NC_000001.9:g.21774986C>T | NCBI36 |
| NG_008940.1:g.71542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.1171C>T MANE Select | ENSP00000363973.3:p.Arg391Cys | |
| ENST00000374829.2:n.440C>T | ||
| ENST00000374830.2:c.246C>T | ||
| ENST00000374832.5:c.1171C>T | ENSP00000363965.1:p.Arg391Cys | |
| ENST00000374840.7:c.1171C>T | ENSP00000363973.3:p.Arg391Cys | |
| ENST00000539907.5:c.940C>T | ENSP00000437674.1:p.Arg314Cys | |
| ENST00000540617.5:c.1006C>T | ENSP00000442672.1:p.Arg336Cys | |
| NM_000478.4:c.1171C>T | NP_000469.3:p.Arg391Cys | |
| NM_001127501.2:c.1006C>T | NP_001120973.2:p.Arg336Cys | |
| NM_001177520.1:c.940C>T | NP_001170991.1:p.Arg314Cys | |
| XM_005245818.1:c.1171C>T | XP_005245875.1:p.Arg391Cys | |
| XM_006710546.1:c.1171C>T | XP_006710609.1:p.Arg391Cys | |
| NM_000478.5:c.1171C>T | NP_000469.3:p.Arg391Cys | |
| NM_001127501.3:c.1006C>T | NP_001120973.2:p.Arg336Cys | |
| NM_001177520.2:c.940C>T | NP_001170991.1:p.Arg314Cys | |
| XM_006710546.3:c.1171C>T | XP_006710609.1:p.Arg391Cys | |
| XM_017000903.1:c.1015C>T | XP_016856392.1:p.Arg339Cys | |
| NM_000478.6:c.1171C>T MANE Select | NP_000469.3:p.Arg391Cys | |
| NM_001127501.4:c.1006C>T | NP_001120973.2:p.Arg336Cys | |
| NM_001177520.3:c.940C>T | NP_001170991.1:p.Arg314Cys | |
| NM_001369803.2:c.1171C>T | NP_001356732.1:p.Arg391Cys | |
| NM_001369804.2:c.1171C>T | NP_001356733.1:p.Arg391Cys | |
| NM_001369805.2:c.1171C>T | NP_001356734.1:p.Arg391Cys |