HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716743A>T , CM000667.2:g.14716743A>T | GRCh38 |
NC_000005.9:g.14716852A>T , CM000667.1:g.14716852A>T | GRCh37 |
NC_000005.8:g.14769852A>T | NCBI36 |
NG_008273.1:g.160036T>A | |
NG_008273.2:g.160043T>A | |
NG_051625.1:g.60950A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1104T>A MANE Select | ENSP00000284268.6:p.Val368= | |
ENST00000284268.6:c.1104T>A | ENSP00000284268.6:p.Val368= | |
ENST00000502585.1:n.346T>A | ||
NM_054027.4:c.1104T>A | NP_473368.1:p.Val368= | |
NM_054027.5:c.1104T>A | NP_473368.1:p.Val368= | |
XM_017009644.2:c.1020T>A | XP_016865133.1:p.Val340= | |
NM_054027.6:c.1104T>A MANE Select | NP_473368.1:p.Val368= |