HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57765117C>G , CM000674.2:g.57765117C>G | GRCh38 |
NC_000012.11:g.58158900C>G , CM000674.1:g.58158900C>G | GRCh37 |
NC_000012.10:g.56445167C>G | NCBI36 |
NG_007076.1:g.7077G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000546609.2:n.596G>C | ||
ENST00000713544.1:c.765G>C | ENSP00000518840.1:p.Val255= | |
ENST00000713545.1:c.742G>C | ENSP00000518841.1:p.Val248Leu | |
ENST00000228606.9:c.684G>C MANE Select | ENSP00000228606.4:p.Val228= | |
ENST00000228606.8:c.684G>C | ENSP00000228606.4:p.Val228= | |
ENST00000546567.5:c.-22G>C | ENSP00000449472.1:n.-22G>C | |
ENST00000546609.1:c.596G>C | ||
ENST00000547344.5:n.823G>C | ||
ENST00000547451.1:n.484G>C | ||
NM_000785.3:c.684G>C | NP_000776.1:p.Val228= | |
NM_000785.4:c.684G>C MANE Select | NP_000776.1:p.Val228= |