HGVS | Genome Assembly |
---|---|
NC_000018.10:g.59269138_59269141dup , CM000680.2:g.59269138_59269141dup | GRCh38 |
NC_000018.9:g.56936370_56936373dup , CM000680.1:g.56936370_56936373dup | GRCh37 |
NC_000018.8:g.55087350_55087353dup | NCBI36 |
NG_013031.1:g.9253_9256dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000334889.4:c.904_907dup MANE Select | ENSP00000334813.3:p.Tyr303PhefsTer? | |
ENST00000256852.7:c.*335_*338dup | ENSP00000256852.7:n.*335_*338dup | |
ENST00000334889.3:c.904_907dup | ENSP00000334813.3:p.Tyr303PhefsTer? | |
NM_013435.2:c.904_907dup | NP_038463.2:p.Tyr303PhefsTer? | |
NM_013435.3:c.904_907dup MANE Select | NP_038463.2:p.Tyr303PhefsTer? |