HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869184C>A , CM000664.2:g.240869184C>A | GRCh38 |
NC_000002.11:g.241808601C>A , CM000664.1:g.241808601C>A | GRCh37 |
NC_000002.10:g.241457274C>A | NCBI36 |
NG_008005.1:g.5440C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.180C>A MANE Select | ENSP00000302620.3:p.Ile60= | |
ENST00000307503.3:c.180C>A | ENSP00000302620.3:p.Ile60= | |
ENST00000472436.1:n.200C>A | ||
NM_000030.2:c.180C>A | NP_000021.1:p.Ile60= | |
XR_924060.1:n.405+1049G>T | ||
NM_000030.3:c.180C>A MANE Select | NP_000021.1:p.Ile60= |