Linked Data
ClinVar Variation Id:
523013
ClinVar RCV Id:
RCV000626215
dbSNP Id:
rs756541797
ExAC:
14:31355191 C / T
gnomAD v2:
14-31355191-C-T
gnomAD v3:
14-30885985-C-T
gnomAD v4:
14-30885985-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30885985C>T , CM000676.2:g.30885985C>T | GRCh38 |
| NC_000014.8:g.31355191C>T , CM000676.1:g.31355191C>T | GRCh37 |
| NC_000014.7:g.30424942C>T | NCBI36 |
| NG_008211.2:g.16451C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216361.9:c.1345C>T | ENSP00000216361.5:p.Arg449Cys | |
| ENST00000396618.9:c.1150C>T MANE Select | ENSP00000379862.3:p.Arg384Cys | |
| ENST00000555117.2:c.1207C>T | ENSP00000493569.1:p.Arg403Cys | |
| ENST00000643575.1:c.1150C>T | ENSP00000494838.1:p.Arg384Cys | |
| ENST00000643697.1:n.1452C>T | ||
| ENST00000644874.2:c.1150C>T | ENSP00000496360.1:p.Arg384Cys | |
| ENST00000216361.8:c.1150C>T | ENSP00000216361.4:p.Arg384Cys | |
| ENST00000396618.7:c.1150C>T | ENSP00000379862.3:p.Arg384Cys | |
| ENST00000460581.6:c.814C>T | ENSP00000451713.1:p.Arg272Cys | |
| ENST00000468826.2:c.801C>T | ||
| ENST00000475087.5:c.1150C>T | ENSP00000451528.1:p.Arg384Cys | |
| NM_001135058.1:c.1150C>T | NP_001128530.1:p.Arg384Cys | |
| NM_004086.2:c.1150C>T | NP_004077.1:p.Arg384Cys | |
| NR_038356.1:n.880G>A | ||
| XM_011536539.1:c.1150C>T | XP_011534841.1:p.Arg384Cys | |
| NM_001347720.1:c.1345C>T | NP_001334649.1:p.Arg449Cys | |
| XM_017021071.1:c.1345C>T | XP_016876560.1:p.Arg449Cys | |
| XM_024449506.1:c.1207C>T | XP_024305274.1:p.Arg403Cys | |
| NM_004086.3:c.1150C>T MANE Select | NP_004077.1:p.Arg384Cys | |
| NM_001135058.2:c.1150C>T | NP_001128530.1:p.Arg384Cys | |
| NM_001347720.2:c.1345C>T | NP_001334649.1:p.Arg449Cys |