HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173488T>C , CM000678.2:g.173488T>C | GRCh38 |
NC_000016.9:g.223487T>C , CM000678.1:g.223487T>C | GRCh37 |
NC_000016.8:g.163487T>C | NCBI36 |
NG_000006.1:g.34351T>C | |
NG_059186.1:g.1838T>C | |
NG_059271.1:g.5642T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.317T>C MANE Select | ENSP00000251595.6:p.Leu106Pro | |
ENST00000251595.10:c.317T>C | ENSP00000251595.6:p.Leu106Pro | |
ENST00000397806.1:c.221T>C | ENSP00000380908.1:p.Leu74Pro | |
ENST00000482565.1:n.453T>C | ||
NM_000517.4:c.317T>C | NP_000508.1:p.Leu106Pro | |
NM_000517.6:c.317T>C MANE Select | NP_000508.1:p.Leu106Pro |