HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173589A>C , CM000678.2:g.173589A>C | GRCh38 |
NC_000016.9:g.223588A>C , CM000678.1:g.223588A>C | GRCh37 |
NC_000016.8:g.163588A>C | NCBI36 |
NG_000006.1:g.34452A>C | |
NG_059186.1:g.1939A>C | |
NG_059271.1:g.5743A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.418A>C MANE Select | ENSP00000251595.6:p.Lys140Gln | |
ENST00000251595.10:c.418A>C | ENSP00000251595.6:p.Lys140Gln | |
ENST00000397806.1:c.322A>C | ENSP00000380908.1:p.Lys108Gln | |
ENST00000482565.1:n.554A>C | ||
NM_000517.4:c.418A>C | NP_000508.1:p.Lys140Gln | |
NM_000517.6:c.418A>C MANE Select | NP_000508.1:p.Lys140Gln |