HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111119094dup , CM000667.2:g.111119094dup | GRCh38 |
NC_000005.9:g.110454792dup , CM000667.1:g.110454792dup | GRCh37 |
NC_000005.8:g.110482691dup | NCBI36 |
NG_008979.1:g.31923dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513710.4:c.1878dup MANE Select | ENSP00000424628.3:p.Val627CysfsTer? | |
ENST00000506538.6:c.2046dup | ENSP00000423067.2:p.Val683CysfsTer? | |
ENST00000513710.3:c.1878dup | ENSP00000424628.3:p.Val627CysfsTer? | |
ENST00000612402.4:c.2046dup | ENSP00000479950.1:p.Val683CysfsTer? | |
NM_139281.2:c.2046dup | NP_644810.1:p.Val683CysfsTer? | |
XM_011543163.1:c.2046dup | XP_011541465.1:p.Val683CysfsTer? | |
NM_139281.3:c.1878dup MANE Select | NP_644810.2:p.Val627CysfsTer? |