HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40472283T= , CM000677.2:g.40472283T= | GRCh38 |
NC_000015.9:g.40764482T= , CM000677.1:g.40764482T= | GRCh37 |
NC_000015.8:g.38551774T= | NCBI36 |
NG_017074.1:g.6323T= , LRG_600:g.6323T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306243.7:c.1070T= MANE Select | ENSP00000307297.6:p.Leu357= | |
ENST00000306243.6:c.1070T= | ENSP00000307297.5:p.Leu357= | |
ENST00000559991.1:c.995T= | ENSP00000453882.1:p.Leu332= | |
NM_130468.3:c.1070T= , LRG_600t1:c.1070T= | NP_569735.1:p.Leu357= | |
NM_130468.4:c.1070T= MANE Select | NP_569735.1:p.Leu357= |