HGVS | Genome Assembly |
---|---|
NC_000013.11:g.28322872T>A , CM000675.2:g.28322872T>A | GRCh38 |
NC_000013.10:g.28897009T>A , CM000675.1:g.28897009T>A | GRCh37 |
NC_000013.9:g.27795009T>A | NCBI36 |
NG_012003.1:g.177257A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706527.1:n.696A>T | ||
ENST00000282397.9:c.2871A>T MANE Select | ENSP00000282397.4:p.Leu957= | |
ENST00000282397.8:c.2871A>T | ENSP00000282397.4:p.Leu957= | |
ENST00000540678.2:c.-889A>T | ENSP00000443311.2:n.-889A>T | |
ENST00000615611.4:c.156A>T | ENSP00000484385.1:p.Leu52= | |
NM_002019.4:c.2871A>T MANE Select | NP_002010.2:p.Leu957= | |
XR_941798.1:n.918-5749T>A | ||
XM_017020485.1:c.2757A>T | XP_016875974.1:p.Leu919= |