HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132677033T>G , CM000667.2:g.132677033T>G | GRCh38 |
NC_000005.9:g.132012725T>G , CM000667.1:g.132012725T>G | GRCh37 |
NC_000005.8:g.132040624T>G | NCBI36 |
NG_023252.1:g.8353T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231449.7:c.183+2527T>G MANE Select | ENSP00000231449.2:n.183+2527T>G | |
ENST00000231449.6:c.183+2527T>G | ENSP00000231449.2:n.183+2527T>G | |
ENST00000350025.2:c.136-2681T>G | ENSP00000325190.3:n.136-2681T>G | |
ENST00000495905.1:n.149+2527T>G | ||
ENST00000622422.1:c.184-748T>G | ENSP00000480581.1:n.184-748T>G | |
NM_000589.3:c.183+2527T>G | NP_000580.1:n.183+2527T>G | |
NM_172348.2:c.136-2681T>G | NP_758858.1:n.136-2681T>G | |
NM_001354990.1:c.184-748T>G | NP_001341919.1:n.184-748T>G | |
NM_000589.4:c.183+2527T>G MANE Select | NP_000580.1:n.183+2527T>G | |
NM_172348.3:c.136-2681T>G | NP_758858.1:n.136-2681T>G | |
NM_001354990.2:c.184-748T>G | NP_001341919.1:n.184-748T>G |