Linked Data
dbSNP Id:
rs1245966925
gnomAD v2:
2-219925044-T-C
gnomAD v4:
2-219060322-T-C
COSMIC:
COSM5746052
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060322T>C , CM000664.2:g.219060322T>C | GRCh38 |
| NC_000002.11:g.219925044T>C , CM000664.1:g.219925044T>C | GRCh37 |
| NC_000002.10:g.219633288T>C | NCBI36 |
| NG_016741.1:g.5195A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.146A>G MANE Select | ENSP00000295731.5:p.Tyr49Cys | |
| ENST00000295731.6:c.146A>G | ENSP00000295731.5:p.Tyr49Cys | |
| NM_002181.3:c.146A>G | NP_002172.2:p.Tyr49Cys | |
| NM_002181.4:c.146A>G MANE Select | NP_002172.2:p.Tyr49Cys |