HGVS | Genome Assembly |
---|---|
NC_000001.11:g.200038251C>A , CM000663.2:g.200038251C>A | GRCh38 |
NC_000001.10:g.200007379C>A , CM000663.1:g.200007379C>A | GRCh37 |
NC_000001.9:g.198274002C>A | NCBI36 |
NG_050913.1:g.15650C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367362.8:c.65-1407C>A MANE Select | ENSP00000356331.3:n.65-1407C>A | |
ENST00000236914.7:c.65-5523C>A | ENSP00000236914.3:n.65-5523C>A | |
ENST00000367362.7:c.65-1407C>A | ENSP00000356331.3:n.65-1407C>A | |
ENST00000447034.1:c.30-450C>A | ||
ENST00000474307.1:c.*419-5523C>A | ENSP00000436776.1:n.*419-5523C>A | |
NM_003822.4:c.65-5523C>A | NP_003813.1:n.65-5523C>A | |
NM_205860.2:c.65-1407C>A | NP_995582.1:n.65-1407C>A | |
XM_011509380.1:c.-56-1407C>A | XP_011507682.1:n.-56-1407C>A | |
XM_011509382.1:c.-14-5523C>A | XP_011507684.1:n.-14-5523C>A | |
XM_011509381.3:c.-578C>A | XP_011507683.1:n.-578C>A | |
NM_205860.3:c.65-1407C>A MANE Select | NP_995582.1:n.65-1407C>A | |
NM_003822.5:c.65-5523C>A | NP_003813.1:n.65-5523C>A |