HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99845788C= , CM000672.2:g.99845788C= | GRCh38 |
NC_000010.10:g.101605545C= , CM000672.1:g.101605545C= | GRCh37 |
NC_000010.9:g.101595535C= | NCBI36 |
NG_011798.1:g.68083C= | |
NG_011798.2:g.68191C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647814.1:c.4146+6C= MANE Select | ENSP00000497274.1:n.4146+6C= | |
ENST00000648523.1:c.34+6C= | ||
ENST00000649459.1:n.494+6C= | ||
ENST00000370449.8:c.4146+6C= | ENSP00000359478.4:n.4146+6C= | |
NM_000392.4:c.4146+6C= | NP_000383.1:n.4146+6C= | |
XM_006717630.2:c.3450+6C= | XP_006717693.1:n.3450+6C= | |
XR_945604.1:n.4276+6C= | ||
XR_945605.1:n.4210+6C= | ||
NM_000392.5:c.4146+6C= MANE Select | NP_000383.2:n.4146+6C= | |
XM_006717630.3:c.3450+6C= | XP_006717693.1:n.3450+6C= | |
XR_945604.3:n.4330+6C= | ||
XR_945605.3:n.4262+6C= |