HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2786949C>T , CM000686.2:g.2786949C>T | GRCh38 |
NC_000024.9:g.2654990C>T , CM000686.1:g.2654990C>T | GRCh37 |
NC_000024.8:g.2714990C>T | NCBI36 |
NG_011751.1:g.5803G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679518.1:n.106+12210C>T | ||
ENST00000679825.1:n.107-46C>T | ||
ENST00000680285.1:n.320-2800C>T | ||
ENST00000680845.1:n.107-46C>T | ||
ENST00000681787.1:n.106+12210C>T | ||
ENST00000681940.1:n.106+12210C>T | ||
ENST00000383070.2:c.*40G>A MANE Select | ENSP00000372547.1:n.*40G>A | |
ENST00000383070.1:c.*40G>A | ENSP00000372547.1:n.*40G>A | |
NM_003140.2:c.*40G>A | NP_003131.1:n.*40G>A | |
NM_003140.3:c.*40G>A MANE Select | NP_003131.1:n.*40G>A |