HGVS | Genome Assembly |
---|---|
NC_000013.11:g.20189421T>A , CM000675.2:g.20189421T>A | GRCh38 |
NC_000013.10:g.20763560T>A , CM000675.1:g.20763560T>A | GRCh37 |
NC_000013.9:g.19661560T>A | NCBI36 |
NG_008358.1:g.8555A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382844.2:c.161A>T | ENSP00000372295.1:p.Asn54Ile | |
ENST00000382848.5:c.161A>T MANE Select | ENSP00000372299.4:p.Asn54Ile | |
ENST00000382844.1:c.161A>T | ENSP00000372295.1:p.Asn54Ile | |
ENST00000382848.4:c.161A>T | ENSP00000372299.4:p.Asn54Ile | |
NM_004004.5:c.161A>T | NP_003995.2:p.Asn54Ile | |
XM_011535049.1:c.161A>T | XP_011533351.1:p.Asn54Ile | |
XM_011535049.2:c.161A>T | XP_011533351.1:p.Asn54Ile | |
NM_004004.6:c.161A>T MANE Select | NP_003995.2:p.Asn54Ile |