HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173492G>C , CM000678.2:g.173492G>C | GRCh38 |
NC_000016.9:g.223491G>C , CM000678.1:g.223491G>C | GRCh37 |
NC_000016.8:g.163491G>C | NCBI36 |
NG_000006.1:g.34355G>C | |
NG_059186.1:g.1842G>C | |
NG_059271.1:g.5646G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.321G>C MANE Select | ENSP00000251595.6:p.Leu107= | |
ENST00000251595.10:c.321G>C | ENSP00000251595.6:p.Leu107= | |
ENST00000397806.1:c.225G>C | ENSP00000380908.1:p.Leu75= | |
ENST00000482565.1:n.457G>C | ||
NM_000517.4:c.321G>C | NP_000508.1:p.Leu107= | |
NM_000517.6:c.321G>C MANE Select | NP_000508.1:p.Leu107= |