HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57765156T>G , CM000674.2:g.57765156T>G | GRCh38 |
NC_000012.11:g.58158939T>G , CM000674.1:g.58158939T>G | GRCh37 |
NC_000012.10:g.56445206T>G | NCBI36 |
NG_007076.1:g.7038A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.557A>C | ||
ENST00000713544.1:c.726A>C | ENSP00000518840.1:p.Pro242= | |
ENST00000713545.1:c.703A>C | ENSP00000518841.1:p.Thr235Pro | |
ENST00000228606.9:c.645A>C MANE Select | ENSP00000228606.4:p.Pro215= | |
ENST00000228606.8:c.645A>C | ENSP00000228606.4:p.Pro215= | |
ENST00000546567.5:c.-61A>C | ENSP00000449472.1:n.-61A>C | |
ENST00000546609.1:c.557A>C | ||
ENST00000547344.5:n.784A>C | ||
ENST00000547451.1:n.445A>C | ||
NM_000785.3:c.645A>C | NP_000776.1:p.Pro215= | |
NM_000785.4:c.645A>C MANE Select | NP_000776.1:p.Pro215= |