HGVS | Genome Assembly |
---|---|
NC_000005.10:g.96399031A>T , CM000667.2:g.96399031A>T | GRCh38 |
NC_000005.9:g.95734735A>T , CM000667.1:g.95734735A>T | GRCh37 |
NC_000005.8:g.95760491A>T | NCBI36 |
NG_021161.1:g.39251T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311106.8:c.1436T>A MANE Select | ENSP00000308024.2:p.Leu479Gln | |
ENST00000311106.7:c.1436T>A | ENSP00000308024.2:p.Leu479Gln | |
ENST00000508626.5:c.1295T>A | ENSP00000421600.1:p.Leu432Gln | |
ENST00000513085.1:n.579T>A | ||
NM_000439.4:c.1436T>A | NP_000430.3:p.Leu479Gln | |
NM_001177875.1:c.1295T>A | NP_001171346.1:p.Leu432Gln | |
NR_130776.1:n.354+19379A>T | ||
NM_000439.5:c.1436T>A MANE Select | NP_000430.3:p.Leu479Gln | |
NM_001177875.2:c.1295T>A | NP_001171346.1:p.Leu432Gln |