HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43172015G>C , CM000683.2:g.43172015G>C | GRCh38 |
NG_009823.1:g.7985G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291554.6:c.313-56G>C MANE Select | ENSP00000291554.2:n.313-56G>C | |
ENST00000398132.1:c.202-56G>C | ENSP00000381200.1:n.202-56G>C | |
ENST00000398133.5:c.253-56G>C | ENSP00000381201.1:n.253-56G>C | |
ENST00000468016.1:n.414-56G>C | ||
ENST00000482775.1:n.394-56G>C | ||
NM_000394.3:c.313-56G>C | NP_000385.1:n.313-56G>C | |
XM_005261093.2:c.202-56G>C | XP_005261150.1:n.202-56G>C | |
NM_001363766.1:c.202-56G>C | NP_001350695.1:n.202-56G>C | |
NM_000394.4:c.313-56G>C MANE Select | NP_000385.1:n.313-56G>C |