HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99851312T>G , CM000672.2:g.99851312T>G | GRCh38 |
NC_000010.10:g.101611069T>G , CM000672.1:g.101611069T>G | GRCh37 |
NC_000010.9:g.101601059T>G | NCBI36 |
NG_011798.1:g.73607T>G | |
NG_011798.2:g.73715T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647814.1:c.4509-190T>G MANE Select | ENSP00000497274.1:n.4509-190T>G | |
ENST00000648523.1:c.579-190T>G | ||
ENST00000370449.8:c.4509-190T>G | ENSP00000359478.4:n.4509-190T>G | |
NM_000392.4:c.4509-190T>G | NP_000383.1:n.4509-190T>G | |
XM_006717630.2:c.3813-190T>G | XP_006717693.1:n.3813-190T>G | |
XR_945605.1:n.4573-190T>G | ||
NM_000392.5:c.4509-190T>G MANE Select | NP_000383.2:n.4509-190T>G | |
XM_006717630.3:c.3813-190T>G | XP_006717693.1:n.3813-190T>G | |
XR_945605.3:n.4625-190T>G |