HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128345168C>T , CM000671.2:g.128345168C>T | GRCh38 |
NC_000009.11:g.131107447C>T , CM000671.1:g.131107447C>T | GRCh37 |
NC_000009.10:g.130147268C>T | NCBI36 |
NG_017057.1:g.9609C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000300456.5:c.175C>T MANE Select | ENSP00000300456.3:p.Leu59Phe | |
ENST00000300456.4:c.175C>T | ENSP00000300456.3:p.Leu59Phe | |
ENST00000372870.5:c.231+1887C>T | ENSP00000361961.1:n.231+1887C>T | |
NM_005094.3:c.175C>T | NP_005085.2:p.Leu59Phe | |
XM_017014222.1:c.175C>T | XP_016869711.1:p.Leu59Phe | |
XM_024447391.1:c.175C>T | XP_024303159.1:p.Leu59Phe | |
NM_005094.4:c.175C>T MANE Select | NP_005085.2:p.Leu59Phe |