HGVS | Genome Assembly |
---|---|
NC_000002.12:g.219213930C>T , CM000664.2:g.219213930C>T | GRCh38 |
NC_000002.11:g.220078652C>T , CM000664.1:g.220078652C>T | GRCh37 |
NC_000002.10:g.219786896C>T | NCBI36 |
NG_032110.1:g.10061G>A |
HGVS | Amino-acid change | |
---|---|---|
NM_005689.2:c.1474G>A VV | NP_005680.1:p.Ala492Thr | |
NM_001349828.1:c.1336G>A VV | NP_001336757.1:p.Ala446Thr | |
NM_005689.3:c.1474G>A VV | ||
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 |