HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869256T>G , CM000664.2:g.240869256T>G | GRCh38 |
NC_000002.11:g.241808673T>G , CM000664.1:g.241808673T>G | GRCh37 |
NC_000002.10:g.241457346T>G | NCBI36 |
NG_008005.1:g.5512T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.252T>G MANE Select | ENSP00000302620.3:p.Cys84Trp | |
ENST00000307503.3:c.252T>G | ENSP00000302620.3:p.Cys84Trp | |
ENST00000472436.1:n.272T>G | ||
NM_000030.2:c.252T>G | NP_000021.1:p.Cys84Trp | |
XR_924060.1:n.405+977A>C | ||
NM_000030.3:c.252T>G MANE Select | NP_000021.1:p.Cys84Trp |