HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31861437A>T , CM000668.2:g.31861437A>T | GRCh38 |
NC_000006.11:g.31829214A>T , CM000668.1:g.31829214A>T | GRCh37 |
NC_000006.10:g.31937193A>T | NCBI36 |
NG_008201.1:g.6496T>A | |
NG_023058.1:g.22610T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.366T>A MANE Select | ENSP00000364782.4:p.Ser122= | |
ENST00000677054.1:n.1043T>A | ||
ENST00000677512.1:n.474T>A | ||
ENST00000678869.1:n.474T>A | ||
ENST00000375631.4:c.366T>A | ENSP00000364782.4:p.Ser122= | |
ENST00000480384.1:n.395T>A | ||
ENST00000491768.5:c.366T>A | ENSP00000433127.1:p.Ser122= | |
ENST00000495807.1:n.934T>A | ||
NM_000434.3:c.366T>A | NP_000425.1:p.Ser122= | |
NM_000434.4:c.366T>A MANE Select | NP_000425.1:p.Ser122= |