HGVS | Genome Assembly |
---|---|
NC_000007.14:g.73683062C>T , CM000669.2:g.73683062C>T | GRCh38 |
NC_000007.13:g.73097392C>T , CM000669.1:g.73097392C>T | GRCh37 |
NC_000007.12:g.72735328C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395176.3:c.362G>A (DNAJC30) MANE Select | ENSP00000378605.1:p.Arg121His | |
ENST00000395176.2:c.362G>A (DNAJC30) | ENSP00000378605.1:p.Arg121His | |
ENST00000464615.1:n.38C>T (BUD23) | ||
NM_032317.2:c.362G>A (DNAJC30) | NP_115693.2:p.Arg121His | |
NM_032317.3:c.362G>A (DNAJC30) MANE Select | NP_115693.2:p.Arg121His |