Linked Data
ClinVar Variation Id:
541277
ClinVar RCV Id:
RCV000651509
dbSNP Id:
rs113570160
ExAC:
11:66114352 T / C
gnomAD v2:
11-66114352-T-C
gnomAD v4:
11-66346881-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66346881T>C , CM000673.2:g.66346881T>C | GRCh38 |
| NC_000011.9:g.66114352T>C , CM000673.1:g.66114352T>C | GRCh37 |
| NC_000011.8:g.65870928T>C | NCBI36 |
| NG_033202.1:g.5810A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311181.5:c.665A>G MANE Select | ENSP00000309096.4:p.Tyr222Cys | |
| ENST00000311181.4:c.665A>G | ENSP00000309096.4:p.Tyr222Cys | |
| NM_006876.2:c.665A>G | NP_006867.1:p.Tyr222Cys | |
| NM_006876.3:c.665A>G MANE Select | NP_006867.1:p.Tyr222Cys |