Linked Data
ClinVar Variation Id:
895008
ClinVar RCV Id:
RCV001136856
dbSNP Id:
rs755321924
ExAC:
2:189872268 C / T
gnomAD v2:
2-189872268-C-T
gnomAD v4:
2-189007542-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189007542C>T , CM000664.2:g.189007542C>T | GRCh38 |
| NC_000002.11:g.189872268C>T , CM000664.1:g.189872268C>T | GRCh37 |
| NC_000002.10:g.189580513C>T | NCBI36 |
| NG_007404.1:g.38170C>T , LRG_3:g.38170C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3199C>T | ENSP00000415346.2:p.Arg1067Cys | |
| ENST00000304636.9:c.3298C>T MANE Select | ENSP00000304408.4:p.Arg1100Cys | |
| ENST00000304636.7:c.3298C>T | ENSP00000304408.3:p.Arg1100Cys | |
| ENST00000317840.9:c.2528-512C>T | ENSP00000315243.6:n.2528-512C>T | |
| NM_000090.3:c.3298C>T , LRG_3t1:c.3298C>T | NP_000081.1:p.Arg1100Cys | |
| NM_000090.4:c.3298C>T MANE Select | NP_000081.2:p.Arg1100Cys |