HGVS | Genome Assembly |
---|---|
NC_000012.12:g.14977969A>G , CM000674.2:g.14977969A>G | GRCh38 |
NC_000012.11:g.15130903A>G , CM000674.1:g.15130903A>G | GRCh37 |
NC_000012.10:g.15022170A>G | NCBI36 |
NG_016859.1:g.9948A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266395.3:c.-41-3A>G MANE Select | ENSP00000266395.2:n.-41-3A>G | |
ENST00000266395.2:c.-41-3A>G | ENSP00000266395.2:n.-41-3A>G | |
NM_006205.2:c.-41-3A>G | NP_006196.1:n.-41-3A>G | |
XR_931376.1:n.175+11518T>C | ||
XM_017019431.2:c.-44A>G | XP_016874920.1:n.-44A>G | |
XR_931376.2:n.389+11518T>C | ||
NM_006205.3:c.-41-3A>G MANE Select | NP_006196.1:n.-41-3A>G |