HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57765088A>G , CM000674.2:g.57765088A>G | GRCh38 |
NC_000012.11:g.58158871A>G , CM000674.1:g.58158871A>G | GRCh37 |
NC_000012.10:g.56445138A>G | NCBI36 |
NG_007076.1:g.7106T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.625T>C | ||
ENST00000713544.1:c.794T>C | ENSP00000518840.1:p.Met265Thr | |
ENST00000713545.1:c.771T>C | ENSP00000518841.1:p.Asp257= | |
ENST00000228606.9:c.713T>C MANE Select | ENSP00000228606.4:p.Met238Thr | |
ENST00000228606.8:c.713T>C | ENSP00000228606.4:p.Met238Thr | |
ENST00000546567.5:c.8T>C | ENSP00000449472.1:p.Met3Thr | |
ENST00000546609.1:c.625T>C | ||
ENST00000547344.5:n.852T>C | ||
ENST00000547451.1:n.513T>C | ||
NM_000785.3:c.713T>C | NP_000776.1:p.Met238Thr | |
NM_000785.4:c.713T>C MANE Select | NP_000776.1:p.Met238Thr |