Linked Data
dbSNP Id:
rs756365811
ExAC:
16:67973865 T / C
gnomAD v2:
16-67973865-T-C
gnomAD v4:
16-67939962-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67939962T>C , CM000678.2:g.67939962T>C | GRCh38 |
| NC_000016.9:g.67973865T>C , CM000678.1:g.67973865T>C | GRCh37 |
| NC_000016.8:g.66531366T>C | NCBI36 |
| NG_009778.1:g.9151A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1265A>G MANE Select | ENSP00000264005.5:p.Tyr422Cys | |
| ENST00000264005.9:c.1265A>G | ENSP00000264005.5:p.Tyr422Cys | |
| ENST00000570369.5:c.268A>G | ||
| ENST00000573538.5:c.1003A>G | ENSP00000463220.1:n.1003A>G | |
| NM_000229.1:c.1265A>G | NP_000220.1:p.Tyr422Cys | |
| NM_000229.2:c.1265A>G MANE Select | NP_000220.1:p.Tyr422Cys |