HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58782571_58782572dup , CM000663.2:g.58782571_58782572dup | GRCh38 |
NC_000001.10:g.59248243_59248244dup , CM000663.1:g.59248243_59248244dup | GRCh37 |
NC_000001.9:g.59020831_59020832dup | NCBI36 |
NG_047027.1:g.6542_6543dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000710273.1:c.565_566dup | ENSP00000518166.1:p.Pro190ArgfsTer15 | |
ENST00000371222.4:c.499_500dup MANE Select | ENSP00000360266.2:p.Pro168ArgfsTer15 | |
ENST00000678696.1:c.499_500dup | ENSP00000503132.1:p.Pro168ArgfsTer15 | |
ENST00000371222.3:c.499_500dup | ENSP00000360266.2:p.Pro168ArgfsTer15 | |
NM_002228.3:c.499_500dup | NP_002219.1:p.Pro168ArgfsTer15 | |
NM_002228.4:c.499_500dup MANE Select | NP_002219.1:p.Pro168ArgfsTer15 |