HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764164C>A , CM000674.2:g.57764164C>A | GRCh38 |
NC_000012.11:g.58157947C>A , CM000674.1:g.58157947C>A | GRCh37 |
NC_000012.10:g.56444214C>A | NCBI36 |
NG_007076.1:g.8030G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1230G>T | ENSP00000518840.1:p.Val410= | |
ENST00000713545.1:c.*154G>T | ENSP00000518841.1:n.*154G>T | |
ENST00000228606.9:c.1149G>T MANE Select | ENSP00000228606.4:p.Val383= | |
ENST00000228606.8:c.1149G>T | ENSP00000228606.4:p.Val383= | |
ENST00000546567.5:c.444G>T | ENSP00000449472.1:p.Val148= | |
ENST00000547344.5:n.1288G>T | ||
NM_000785.3:c.1149G>T | NP_000776.1:p.Val383= | |
NM_000785.4:c.1149G>T MANE Select | NP_000776.1:p.Val383= |