HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173570G>T , CM000678.2:g.173570G>T | GRCh38 |
NC_000016.9:g.223569G>T , CM000678.1:g.223569G>T | GRCh37 |
NC_000016.8:g.163569G>T | NCBI36 |
NG_000006.1:g.34433G>T | |
NG_059186.1:g.1920G>T | |
NG_059271.1:g.5724G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.399G>T MANE Select | ENSP00000251595.6:p.Val133= | |
ENST00000251595.10:c.399G>T | ENSP00000251595.6:p.Val133= | |
ENST00000397806.1:c.303G>T | ENSP00000380908.1:p.Val101= | |
ENST00000482565.1:n.535G>T | ||
NM_000517.4:c.399G>T | NP_000508.1:p.Val133= | |
NM_000517.6:c.399G>T MANE Select | NP_000508.1:p.Val133= |