HGVS | Genome Assembly |
---|---|
NC_000023.11:g.134475193T>A , CM000685.2:g.134475193T>A | GRCh38 |
NC_000023.10:g.133609223T>A , CM000685.1:g.133609223T>A | GRCh37 |
NC_000023.9:g.133436889T>A | NCBI36 |
NG_012329.1:g.20049T>A | |
NG_012329.2:g.20049T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298556.8:c.147T>A MANE Select | ENSP00000298556.7:p.Leu49= | |
ENST00000298556.7:c.147T>A | ENSP00000298556.7:p.Leu49= | |
ENST00000462974.5:n.305T>A | ||
ENST00000475720.1:n.105T>A | ||
NM_000194.2:c.147T>A | NP_000185.1:p.Leu49= | |
XM_011531328.1:c.165T>A | XP_011529630.1:p.Leu55= | |
NM_000194.3:c.147T>A MANE Select | NP_000185.1:p.Leu49= |