HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232523804C>T , CM000664.2:g.232523804C>T | GRCh38 |
NC_000002.11:g.233388514C>T , CM000664.1:g.233388514C>T | GRCh37 |
NC_000002.10:g.233096758C>T | NCBI36 |
NG_008028.1:g.2593C>T | |
NG_031969.1:g.8342C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617714.2:c.1045C>T MANE Select | ENSP00000479745.1:p.Leu349Phe | |
ENST00000449534.6:c.1048C>T | ENSP00000473410.1:p.Leu350Phe | |
ENST00000617714.1:c.1045C>T | ENSP00000479745.1:p.Leu349Phe | |
NM_001195129.1:c.1045C>T | NP_001182058.1:p.Leu349Phe | |
NM_001195129.2:c.1045C>T MANE Select | NP_001182058.1:p.Leu349Phe | |
NM_001369848.1:c.1048C>T | NP_001356777.1:p.Leu350Phe |