HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154993034G>A , CM000685.2:g.154993034G>A | GRCh38 |
NC_000023.10:g.154221309G>A , CM000685.1:g.154221309G>A | GRCh37 |
NC_000023.9:g.153874503G>A | NCBI36 |
NG_011403.1:g.34690C>T | |
NG_011403.2:g.34690C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.503C>T MANE Select | ENSP00000353393.4:p.Ser168Phe | |
ENST00000647125.1:c.*289C>T | ENSP00000496062.1:n.*289C>T | |
ENST00000360256.8:c.503C>T | ENSP00000353393.4:p.Ser168Phe | |
ENST00000423959.5:c.398C>T | ENSP00000409446.1:p.Ser133Phe | |
ENST00000453950.1:c.485C>T | ENSP00000389153.1:p.Ser162Phe | |
NM_000132.3:c.503C>T | NP_000123.1:p.Ser168Phe | |
XM_011531126.1:c.398C>T | XP_011529428.1:p.Ser133Phe | |
NM_000132.4:c.503C>T MANE Select | NP_000123.1:p.Ser168Phe |