HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766187G>T , CM000674.2:g.57766187G>T | GRCh38 |
NC_000012.11:g.58159970G>T , CM000674.1:g.58159970G>T | GRCh37 |
NC_000012.10:g.56446237G>T | NCBI36 |
NG_007076.1:g.6007C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.118C>A | ||
ENST00000713544.1:c.206C>A | ENSP00000518840.1:p.Ala69Asp | |
ENST00000713545.1:c.206C>A | ENSP00000518841.1:p.Ala69Asp | |
ENST00000228606.9:c.206C>A MANE Select | ENSP00000228606.4:p.Ala69Asp | |
ENST00000228606.8:c.206C>A | ENSP00000228606.4:p.Ala69Asp | |
ENST00000546496.1:n.34C>A | ||
ENST00000546609.1:c.118C>A | ||
ENST00000547344.5:n.260C>A | ||
ENST00000552186.1:n.325C>A | ||
NM_000785.3:c.206C>A | NP_000776.1:p.Ala69Asp | |
NM_000785.4:c.206C>A MANE Select | NP_000776.1:p.Ala69Asp |