HGVS | Genome Assembly |
---|---|
NC_000006.12:g.42763360A>C , CM000668.2:g.42763360A>C | GRCh38 |
NC_000006.11:g.42731098A>C , CM000668.1:g.42731098A>C | GRCh37 |
NC_000006.10:g.42839076A>C | NCBI36 |
NG_054763.1:g.21403A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614467.4:c.-261+16337A>C | ENSP00000482211.1:n.-261+16337A>C | |
XR_926809.1:n.919+3426A>C | ||
XR_926810.1:n.904+3426A>C | ||
XR_926811.1:n.1175+3426A>C | ||
NM_001318819.1:c.-365+16337A>C | NP_001305748.1:n.-365+16337A>C | |
NM_001318819.2:c.-365+16337A>C | NP_001305748.1:n.-365+16337A>C |