HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173242G>T , CM000678.2:g.173242G>T | GRCh38 |
NC_000016.9:g.223241G>T , CM000678.1:g.223241G>T | GRCh37 |
NC_000016.8:g.163241G>T | NCBI36 |
NG_000006.1:g.34105G>T | |
NG_059186.1:g.1592G>T | |
NG_059271.1:g.5396G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.213G>T MANE Select | ENSP00000251595.6:p.Val71= | |
ENST00000251595.10:c.213G>T | ENSP00000251595.6:p.Val71= | |
ENST00000397806.1:c.117G>T | ENSP00000380908.1:p.Val39= | |
ENST00000482565.1:n.349G>T | ||
ENST00000484216.1:n.182G>T | ||
NM_000517.4:c.213G>T | NP_000508.1:p.Val71= | |
NM_000517.6:c.213G>T MANE Select | NP_000508.1:p.Val71= |