HGVS | Genome Assembly |
---|---|
NC_000007.14:g.73683123G>A , CM000669.2:g.73683123G>A | GRCh38 |
NC_000007.13:g.73097453G>A , CM000669.1:g.73097453G>A | GRCh37 |
NC_000007.12:g.72735389G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395176.3:c.301C>T (DNAJC30) MANE Select | ENSP00000378605.1:p.Leu101= | |
ENST00000395176.2:c.301C>T (DNAJC30) | ENSP00000378605.1:p.Leu101= | |
ENST00000464615.1:n.99G>A (BUD23) | ||
NM_032317.2:c.301C>T (DNAJC30) | NP_115693.2:p.Leu101= | |
NM_032317.3:c.301C>T (DNAJC30) MANE Select | NP_115693.2:p.Leu101= |