HGVS | Genome Assembly |
---|---|
NC_000013.11:g.41193050T>G , CM000675.2:g.41193050T>G | GRCh38 |
NC_000013.10:g.41767186T>G , CM000675.1:g.41767186T>G | GRCh37 |
NC_000013.9:g.40665186T>G | NCBI36 |
NG_053142.1:g.6535A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379483.4:c.1208A>C (KBTBD7) MANE Select | ENSP00000368797.3:p.Lys403Thr | |
ENST00000379483.3:c.1208A>C (KBTBD7) | ENSP00000368797.3:p.Lys403Thr | |
NM_032138.4:c.1208A>C (KBTBD7) | NP_115514.2:p.Lys403Thr | |
NR_120423.1:n.350+30647T>G (KBTBD6-DT) | ||
NM_032138.6:c.1208A>C (KBTBD7) | NP_115514.2:p.Lys403Thr | |
NM_032138.7:c.1208A>C (KBTBD7) MANE Select | NP_115514.2:p.Lys403Thr |