Linked Data
ClinVar Variation Id:
373089
ClinVar RCV Id:
RCV000413186
RCV000765613
RCV000788318
RCV001375986
RCV001813471
RCV003327295
RCV004530516
dbSNP Id:
rs747430075
ExAC:
22:21347167 C / T
gnomAD v2:
22-21347167-C-T
gnomAD v4:
22-20992878-C-T
COSMIC:
COSM4462153
ERepo:
CA501019/MONDO:0021060/094
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20992878C>T , CM000684.2:g.20992878C>T | GRCh38 |
| NC_000022.10:g.21347167C>T , CM000684.1:g.21347167C>T | GRCh37 |
| NC_000022.9:g.19677167C>T | NCBI36 |
| NG_034193.1:g.15610C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.1234C>T | ENSP00000515073.1:p.Arg412Cys | |
| ENST00000495142.6:n.579C>T | ||
| ENST00000642151.1:c.1065C>T | ||
| ENST00000643578.1:n.1256C>T | ||
| ENST00000646124.2:c.1234C>T MANE Select | ENSP00000496779.1:p.Arg412Cys | |
| ENST00000646506.1:n.813C>T | ||
| ENST00000215739.12:c.1234C>T | ENSP00000215739.8:p.Arg412Cys | |
| ENST00000479606.5:n.1380C>T | ||
| ENST00000492480.1:n.290C>T | ||
| NM_006767.3:c.1234C>T | NP_006758.2:p.Arg412Cys | |
| NM_006767.4:c.1234C>T MANE Select | NP_006758.2:p.Arg412Cys |