HGVS | Genome Assembly |
---|---|
NC_000013.11:g.20189266A>T , CM000675.2:g.20189266A>T | GRCh38 |
NC_000013.10:g.20763405A>T , CM000675.1:g.20763405A>T | GRCh37 |
NC_000013.9:g.19661405A>T | NCBI36 |
NG_008358.1:g.8710T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382844.2:c.316T>A | ENSP00000372295.1:p.Phe106Ile | |
ENST00000382848.5:c.316T>A MANE Select | ENSP00000372299.4:p.Phe106Ile | |
ENST00000382844.1:c.316T>A | ENSP00000372295.1:p.Phe106Ile | |
ENST00000382848.4:c.316T>A | ENSP00000372299.4:p.Phe106Ile | |
NM_004004.5:c.316T>A | NP_003995.2:p.Phe106Ile | |
XM_011535049.1:c.316T>A | XP_011533351.1:p.Phe106Ile | |
XM_011535049.2:c.316T>A | XP_011533351.1:p.Phe106Ile | |
NM_004004.6:c.316T>A MANE Select | NP_003995.2:p.Phe106Ile |