HGVS | Genome Assembly |
---|---|
NC_000012.12:g.106463511dup , CM000674.2:g.106463511dup | GRCh38 |
NC_000012.11:g.106857289dup , CM000674.1:g.106857289dup | GRCh37 |
NC_000012.10:g.105381419dup | NCBI36 |
NG_031837.1:g.110854dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000228347.9:c.2604dup MANE Select | ENSP00000228347.4:p.Val869SerfsTer8 | |
ENST00000228347.8:c.2604dup | ENSP00000228347.4:p.Val869SerfsTer8 | |
ENST00000539066.5:c.2430dup | ENSP00000445721.1:p.Val811SerfsTer8 | |
NM_001160708.1:c.2430dup | NP_001154180.1:p.Val811SerfsTer8 | |
NM_018082.5:c.2604dup | NP_060552.4:p.Val869SerfsTer8 | |
XM_017019621.2:c.2604dup | XP_016875110.1:p.Val869SerfsTer8 | |
NM_018082.6:c.2604dup MANE Select | NP_060552.4:p.Val869SerfsTer8 | |
NM_001160708.2:c.2430dup | NP_001154180.1:p.Val811SerfsTer8 |