HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43169056T>C , CM000683.2:g.43169056T>C | GRCh38 |
NG_009823.1:g.5026T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291554.6:c.-44T>C MANE Select | ENSP00000291554.2:n.-44T>C | |
NM_000394.3:c.-44T>C | NP_000385.1:n.-44T>C | |
XR_001755073.1:n.647+1981A>G | ||
NM_000394.4:c.-44T>C MANE Select | NP_000385.1:n.-44T>C |