HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31861424T= , CM000668.2:g.31861424T= | GRCh38 |
NC_000006.11:g.31829201T= , CM000668.1:g.31829201T= | GRCh37 |
NC_000006.10:g.31937180T= | NCBI36 |
NG_008201.1:g.6509A= | |
NG_023058.1:g.22623A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.379A= MANE Select | ENSP00000364782.4:p.Ile127= | |
ENST00000677054.1:n.1056A= | ||
ENST00000677512.1:n.487A= | ||
ENST00000678869.1:n.487A= | ||
ENST00000375631.4:c.379A= | ENSP00000364782.4:p.Ile127= | |
ENST00000480384.1:n.408A= | ||
ENST00000491768.5:c.379A= | ENSP00000433127.1:p.Ile127= | |
ENST00000495807.1:n.947A= | ||
NM_000434.3:c.379A= | NP_000425.1:p.Ile127= | |
NM_000434.4:c.379A= MANE Select | NP_000425.1:p.Ile127= |