HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98541771_98541772dup , CM000671.2:g.98541771_98541772dup | GRCh38 |
NC_000009.11:g.101304053_101304054dup , CM000671.1:g.101304053_101304054dup | GRCh37 |
NC_000009.10:g.100343874_100343875dup | NCBI36 |
NG_016426.1:g.172428_172429dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.630+103_630+104dup MANE Select | ENSP00000259455.2:n.630+103_630+104dup | |
ENST00000637410.1:n.408+103_408+104dup | ||
ENST00000259455.3:c.630+103_630+104dup | ENSP00000259455.2:n.630+103_630+104dup | |
ENST00000477471.1:n.417+103_417+104dup | ||
ENST00000634227.1:n.404+103_404+104dup | ||
NM_005458.7:c.630+103_630+104dup | NP_005449.5:n.630+103_630+104dup | |
XM_017015331.2:c.336+103_336+104dup | XP_016870820.1:n.336+103_336+104dup | |
NM_005458.8:c.630+103_630+104dup MANE Select | NP_005449.5:n.630+103_630+104dup |