HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764498A>G , CM000674.2:g.57764498A>G | GRCh38 |
NC_000012.11:g.58158281A>G , CM000674.1:g.58158281A>G | GRCh37 |
NC_000012.10:g.56444548A>G | NCBI36 |
NG_007076.1:g.7696T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1097T>C | ENSP00000518840.1:p.Val366Ala | |
ENST00000713545.1:c.*21T>C | ENSP00000518841.1:n.*21T>C | |
ENST00000228606.9:c.1016T>C MANE Select | ENSP00000228606.4:p.Val339Ala | |
ENST00000228606.8:c.1016T>C | ENSP00000228606.4:p.Val339Ala | |
ENST00000546567.5:c.311T>C | ENSP00000449472.1:p.Val104Ala | |
ENST00000547344.5:n.1155T>C | ||
NM_000785.3:c.1016T>C | NP_000776.1:p.Val339Ala | |
NM_000785.4:c.1016T>C MANE Select | NP_000776.1:p.Val339Ala |