HGVS | Genome Assembly |
---|---|
NC_000004.12:g.87612172C>T , CM000666.2:g.87612172C>T | GRCh38 |
NC_000004.11:g.88533324C>T , CM000666.1:g.88533324C>T | GRCh37 |
NC_000004.10:g.88752348C>T | NCBI36 |
NG_011595.1:g.8644C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651931.1:c.119C>T MANE Select | ENSP00000498766.1:p.Ser40Leu | |
ENST00000282478.7:c.119C>T | ENSP00000282478.7:p.Ser40Leu | |
ENST00000399271.5:c.119C>T | ENSP00000382213.1:p.Ser40Leu | |
NM_014208.3:c.119C>T MANE Select | NP_055023.2:p.Ser40Leu |