HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99845581G>T , CM000672.2:g.99845581G>T | GRCh38 |
NC_000010.10:g.101605338G>T , CM000672.1:g.101605338G>T | GRCh37 |
NC_000010.9:g.101595328G>T | NCBI36 |
NG_011798.1:g.67876G>T | |
NG_011798.2:g.67984G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647814.1:c.3988-43G>T MANE Select | ENSP00000497274.1:n.3988-43G>T | |
ENST00000649459.1:n.336-43G>T | ||
ENST00000370449.8:c.3988-43G>T | ENSP00000359478.4:n.3988-43G>T | |
NM_000392.4:c.3988-43G>T | NP_000383.1:n.3988-43G>T | |
XM_006717630.2:c.3292-43G>T | XP_006717693.1:n.3292-43G>T | |
XR_945604.1:n.4177-102G>T | ||
XR_945605.1:n.4052-43G>T | ||
NM_000392.5:c.3988-43G>T MANE Select | NP_000383.2:n.3988-43G>T | |
XM_006717630.3:c.3292-43G>T | XP_006717693.1:n.3292-43G>T | |
XR_945604.3:n.4231-102G>T | ||
XR_945605.3:n.4104-43G>T |