HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31860465T>A , CM000668.2:g.31860465T>A | GRCh38 |
NC_000006.11:g.31828242T>A , CM000668.1:g.31828242T>A | GRCh37 |
NC_000006.10:g.31936221T>A | NCBI36 |
NG_008201.1:g.7468A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375631.5:c.772A>T MANE Select | ENSP00000364782.4:p.Asn258Tyr | |
ENST00000677054.1:n.2015A>T | ||
ENST00000677512.1:n.880A>T | ||
ENST00000678869.1:n.1446A>T | ||
ENST00000375631.4:c.772A>T | ENSP00000364782.4:p.Asn258Tyr | |
ENST00000480384.1:n.801A>T | ||
ENST00000491768.5:c.772A>T | ENSP00000433127.1:p.Asn258Tyr | |
ENST00000495807.1:n.1906A>T | ||
NM_000434.3:c.772A>T | NP_000425.1:p.Asn258Tyr | |
NM_000434.4:c.772A>T MANE Select | NP_000425.1:p.Asn258Tyr |