HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173225G>T , CM000678.2:g.173225G>T | GRCh38 |
NC_000016.9:g.223224G>T , CM000678.1:g.223224G>T | GRCh37 |
NC_000016.8:g.163224G>T | NCBI36 |
NG_000006.1:g.34088G>T | |
NG_059186.1:g.1575G>T | |
NG_059271.1:g.5379G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.196G>T MANE Select | ENSP00000251595.6:p.Ala66Ser | |
ENST00000251595.10:c.196G>T | ENSP00000251595.6:p.Ala66Ser | |
ENST00000397806.1:c.100G>T | ENSP00000380908.1:p.Ala34Ser | |
ENST00000482565.1:n.332G>T | ||
ENST00000484216.1:n.165G>T | ||
NM_000517.4:c.196G>T | NP_000508.1:p.Ala66Ser | |
NM_000517.6:c.196G>T MANE Select | NP_000508.1:p.Ala66Ser |