HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173225G>C , CM000678.2:g.173225G>C | GRCh38 |
NC_000016.9:g.223224G>C , CM000678.1:g.223224G>C | GRCh37 |
NC_000016.8:g.163224G>C | NCBI36 |
NG_000006.1:g.34088G>C | |
NG_059186.1:g.1575G>C | |
NG_059271.1:g.5379G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.196G>C MANE Select | ENSP00000251595.6:p.Ala66Pro | |
ENST00000251595.10:c.196G>C | ENSP00000251595.6:p.Ala66Pro | |
ENST00000397806.1:c.100G>C | ENSP00000380908.1:p.Ala34Pro | |
ENST00000482565.1:n.332G>C | ||
ENST00000484216.1:n.165G>C | ||
NM_000517.4:c.196G>C | NP_000508.1:p.Ala66Pro | |
NM_000517.6:c.196G>C MANE Select | NP_000508.1:p.Ala66Pro |