HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99844499C>G , CM000672.2:g.99844499C>G | GRCh38 |
NC_000010.10:g.101604256C>G , CM000672.1:g.101604256C>G | GRCh37 |
NC_000010.9:g.101594246C>G | NCBI36 |
NG_011798.1:g.66794C>G | |
NG_011798.2:g.66902C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647814.1:c.3987+34C>G MANE Select | ENSP00000497274.1:n.3987+34C>G | |
ENST00000649459.1:n.335+34C>G | ||
ENST00000370449.8:c.3987+34C>G | ENSP00000359478.4:n.3987+34C>G | |
NM_000392.4:c.3987+34C>G | NP_000383.1:n.3987+34C>G | |
XM_006717630.2:c.3291+34C>G | XP_006717693.1:n.3291+34C>G | |
XR_945604.1:n.4176+34C>G | ||
XR_945605.1:n.4051+34C>G | ||
NM_000392.5:c.3987+34C>G MANE Select | NP_000383.2:n.3987+34C>G | |
XM_006717630.3:c.3291+34C>G | XP_006717693.1:n.3291+34C>G | |
XR_945604.3:n.4230+34C>G | ||
XR_945605.3:n.4103+34C>G |