HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67584769C>T , CM000673.2:g.67584769C>T | GRCh38 |
NC_000011.9:g.67352240C>T , CM000673.1:g.67352240C>T | GRCh37 |
NC_000011.8:g.67108816C>T | NCBI36 |
NG_012075.1:g.6175C>T , LRG_723:g.6175C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.229C>T | ENSP00000381604.1:p.Leu77Phe | |
ENST00000398606.10:c.229C>T MANE Select | ENSP00000381607.3:p.Leu77Phe | |
ENST00000646888.1:c.122C>T | ENSP00000494477.1:p.Pro41Leu | |
ENST00000398603.5:c.229C>T | ENSP00000381604.1:p.Leu77Phe | |
ENST00000398606.7:c.229C>T | ENSP00000381607.3:p.Leu77Phe | |
ENST00000489040.1:n.228C>T | ||
ENST00000494593.1:n.659C>T | ||
ENST00000498765.5:c.192C>T | ||
NM_000852.3:c.229C>T , LRG_723t1:c.229C>T | NP_000843.1:p.Leu77Phe | |
NM_000852.4:c.229C>T MANE Select | NP_000843.1:p.Leu77Phe |