HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31860462C>T , CM000668.2:g.31860462C>T | GRCh38 |
NC_000006.11:g.31828239C>T , CM000668.1:g.31828239C>T | GRCh37 |
NC_000006.10:g.31936218C>T | NCBI36 |
NG_008201.1:g.7471G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375631.5:c.775G>A MANE Select | ENSP00000364782.4:p.Asp259Asn | |
ENST00000677054.1:n.2018G>A | ||
ENST00000677512.1:n.883G>A | ||
ENST00000678869.1:n.1449G>A | ||
ENST00000375631.4:c.775G>A | ENSP00000364782.4:p.Asp259Asn | |
ENST00000480384.1:n.804G>A | ||
ENST00000491768.5:c.775G>A | ENSP00000433127.1:p.Asp259Asn | |
ENST00000495807.1:n.1909G>A | ||
NM_000434.3:c.775G>A | NP_000425.1:p.Asp259Asn | |
NM_000434.4:c.775G>A MANE Select | NP_000425.1:p.Asp259Asn |