HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4110539G>A , CM000681.2:g.4110539G>A | GRCh38 |
NC_000019.9:g.4110537G>A , CM000681.1:g.4110537G>A | GRCh37 |
NC_000019.8:g.4061537G>A | NCBI36 |
NG_007996.1:g.18590C>T , LRG_750:g.18590C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000394867.9:n.859C>T | ||
ENST00000687128.1:n.859C>T | ||
ENST00000262948.10:c.420C>T MANE Select | ENSP00000262948.4:p.Asp140= | |
ENST00000262948.9:c.420C>T | ENSP00000262948.3:p.Asp140= | |
ENST00000394867.8:c.129C>T | ENSP00000378336.1:p.Asp43= | |
ENST00000599345.1:n.617C>T | ||
NM_030662.3:c.420C>T , LRG_750t1:c.420C>T | NP_109587.1:p.Asp140= | |
XM_006722799.2:c.420C>T | XP_006722862.1:p.Asp140= | |
XM_017026989.1:c.420C>T | XP_016882478.1:p.Asp140= | |
XM_017026990.1:c.420C>T | XP_016882479.1:p.Asp140= | |
XM_017026991.1:c.420C>T | XP_016882480.1:p.Asp140= | |
NM_030662.4:c.420C>T MANE Select | NP_109587.1:p.Asp140= |