HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787433C>A , CM000686.2:g.2787433C>A | GRCh38 |
NC_000024.9:g.2655474C>A , CM000686.1:g.2655474C>A | GRCh37 |
NC_000024.8:g.2715474C>A | NCBI36 |
NG_011751.1:g.5319G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.106+12694C>A | ||
ENST00000679825.1:n.545C>A | ||
ENST00000680285.1:n.320-2316C>A | ||
ENST00000680845.1:n.166-47C>A | ||
ENST00000681787.1:n.106+12694C>A | ||
ENST00000681940.1:n.106+12694C>A | ||
ENST00000383070.2:c.171G>T MANE Select | ENSP00000372547.1:p.Gln57His | |
ENST00000383070.1:c.171G>T | ENSP00000372547.1:p.Gln57His | |
NM_003140.2:c.171G>T | NP_003131.1:p.Gln57His | |
NM_003140.3:c.171G>T MANE Select | NP_003131.1:p.Gln57His |