HGVS | Genome Assembly |
---|---|
NC_000016.10:g.172965T>C , CM000678.2:g.172965T>C | GRCh38 |
NC_000016.9:g.222964T>C , CM000678.1:g.222964T>C | GRCh37 |
NC_000016.8:g.162964T>C | NCBI36 |
NG_000006.1:g.33828T>C | |
NG_059186.1:g.1315T>C | |
NG_059271.1:g.5119T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.53T>C MANE Select | ENSP00000251595.6:p.Val18Ala | |
ENST00000251595.10:c.53T>C | ENSP00000251595.6:p.Val18Ala | |
ENST00000397806.1:c.-2+7T>C | ENSP00000380908.1:n.-2+7T>C | |
ENST00000482565.1:n.72T>C | ||
ENST00000484216.1:n.22T>C | ||
NM_000517.4:c.53T>C | NP_000508.1:p.Val18Ala | |
NM_000517.6:c.53T>C MANE Select | NP_000508.1:p.Val18Ala |