HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120738647dup , CM000674.2:g.120738647dup | GRCh38 |
NC_000012.11:g.121176450dup , CM000674.1:g.121176450dup | GRCh37 |
NC_000012.10:g.119660833dup | NCBI36 |
NG_007991.1:g.17880dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.910dup MANE Select | ENSP00000242592.4:p.Leu304ProfsTer? | |
ENST00000242592.8:c.910dup | ENSP00000242592.4:p.Leu304ProfsTer? | |
ENST00000411593.2:c.898dup | ENSP00000401045.2:p.Leu300ProfsTer? | |
NM_000017.3:c.910dup | NP_000008.1:p.Leu304ProfsTer? | |
NM_001302554.1:c.898dup | NP_001289483.1:p.Leu300ProfsTer? | |
NM_000017.4:c.910dup MANE Select | NP_000008.1:p.Leu304ProfsTer? | |
NM_001302554.2:c.898dup | NP_001289483.1:p.Leu300ProfsTer? |