Identifiers and link-outs to other resources
dbSNP Id:
rs147445258
ExAC:
2:220078652 C / T
gnomAD:
2:220078652 C / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219213930C>T , CM000664.2:g.219213930C>T | GRCh38 |
| NC_000002.10:g.219786896C>T | NCBI36 |
| NC_000002.11:g.220078652C>T , CM000664.1:g.220078652C>T | GRCh37 |
| NG_032110.1:g.10061G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265316.7:c.1474G>A | ENSP00000265316.3:p.Ala492Thr | |
| ENST00000295750.4:n.1017G>A | ||
| ENST00000446716.5:n.4199G>A | ||
| ENST00000448398.5:n.550G>A | ||
| ENST00000494639.5:n.383G>A | ||
| ENST00000496984.5:n.675G>A | ||
| ENST00000497882.5:n.1787G>A | ||
| NM_005689.2:c.1474G>A VV | NP_005680.1:p.Ala492Thr |