HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240868985dup , CM000664.2:g.240868985dup | GRCh38 |
NC_000002.11:g.241808402dup , CM000664.1:g.241808402dup | GRCh37 |
NC_000002.10:g.241457075dup | NCBI36 |
NG_008005.1:g.5241dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.120dup MANE Select | ENSP00000302620.3:p.Gly41ArgfsTer? | |
ENST00000307503.3:c.120dup | ENSP00000302620.3:p.Gly41ArgfsTer? | |
ENST00000472436.1:n.140dup | ||
NM_000030.2:c.120dup | NP_000021.1:p.Gly41ArgfsTer? | |
XR_924060.1:n.405+1249dup | ||
NM_000030.3:c.120dup MANE Select | NP_000021.1:p.Gly41ArgfsTer? |