Linked Data
ClinVar Variation Id:
2140719
ClinVar RCV Id:
RCV003056593
dbSNP Id:
rs767711277
ExAC:
10:89487196 C / T
gnomAD v2:
10-89487196-C-T
gnomAD v3:
10-87727439-C-T
gnomAD v4:
10-87727439-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727439C>T , CM000672.2:g.87727439C>T | GRCh38 |
| NC_000010.10:g.89487196C>T , CM000672.1:g.89487196C>T | GRCh37 |
| NC_000010.9:g.89477176C>T | NCBI36 |
| NG_012150.1:g.72721C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1036C>T MANE Select | ENSP00000406157.1:p.Arg346Cys | |
| ENST00000361175.8:c.1021C>T | ENSP00000354436.4:p.Arg341Cys | |
| ENST00000456849.1:c.1036C>T | ENSP00000406157.1:p.Arg346Cys | |
| NM_001015880.1:c.1036C>T | NP_001015880.1:p.Arg346Cys | |
| NM_004670.3:c.1021C>T | NP_004661.2:p.Arg341Cys | |
| NM_001015880.2:c.1036C>T MANE Select | NP_001015880.1:p.Arg346Cys | |
| NM_004670.4:c.1021C>T | NP_004661.2:p.Arg341Cys |