HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787293G>C , CM000686.2:g.2787293G>C | GRCh38 |
NC_000024.9:g.2655334G>C , CM000686.1:g.2655334G>C | GRCh37 |
NC_000024.8:g.2715334G>C | NCBI36 |
NG_011751.1:g.5459C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.106+12554G>C | ||
ENST00000679825.1:n.405G>C | ||
ENST00000680285.1:n.320-2456G>C | ||
ENST00000680845.1:n.166-187G>C | ||
ENST00000681787.1:n.106+12554G>C | ||
ENST00000681940.1:n.106+12554G>C | ||
ENST00000383070.2:c.311C>G MANE Select | ENSP00000372547.1:p.Ala104Gly | |
ENST00000383070.1:c.311C>G | ENSP00000372547.1:p.Ala104Gly | |
NM_003140.2:c.311C>G | NP_003131.1:p.Ala104Gly | |
NM_003140.3:c.311C>G MANE Select | NP_003131.1:p.Ala104Gly |