HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4090335C>T , CM000681.2:g.4090335C>T | GRCh38 |
NC_000019.9:g.4090333C>T , CM000681.1:g.4090333C>T | GRCh37 |
NC_000019.8:g.4041333C>T | NCBI36 |
NG_007996.1:g.38794G>A , LRG_750:g.38794G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000689792.1:n.1370G>A | ||
ENST00000262948.10:c.*263G>A MANE Select | ENSP00000262948.4:n.*263G>A | |
ENST00000262948.9:c.*263G>A | ENSP00000262948.3:n.*263G>A | |
ENST00000394867.8:c.*263G>A | ENSP00000378336.1:n.*263G>A | |
ENST00000600584.5:n.2915G>A | ||
ENST00000601786.5:n.1767G>A | ||
NM_030662.3:c.*263G>A , LRG_750t1:c.*263G>A | NP_109587.1:n.*263G>A | |
XM_006722799.2:c.*263G>A | XP_006722862.1:n.*263G>A | |
XM_011528133.1:c.*263G>A | XP_011526435.1:n.*263G>A | |
NM_030662.4:c.*263G>A MANE Select | NP_109587.1:n.*263G>A |