HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18388621_18388624dup , CM000681.2:g.18388621_18388624dup | GRCh38 |
NC_000019.9:g.18499431_18499434dup , CM000681.1:g.18499431_18499434dup | GRCh37 |
NC_000019.8:g.18360431_18360434dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000595973.3:c.613_616dup | ENSP00000470531.3:p.Gly206AlafsTer? | |
ENST00000597765.2:c.613_616dup | ENSP00000469819.2:p.Gly206AlafsTer? | |
ENST00000252809.3:c.613_616dup MANE Select | ENSP00000252809.3:p.Gly206AlafsTer? | |
NM_004864.2:c.613_616dup | NP_004855.2:p.Gly206AlafsTer? | |
NM_004864.3:c.613_616dup | NP_004855.2:p.Gly206AlafsTer? | |
XM_024451789.1:c.613_616dup | XP_024307557.1:p.Gly206AlafsTer? | |
NM_004864.4:c.613_616dup MANE Select | NP_004855.2:p.Gly206AlafsTer? |