HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659435T= , CM000685.2:g.136659435T= | GRCh38 |
NC_000023.10:g.135741594T= , CM000685.1:g.135741594T= | GRCh37 |
NC_000023.9:g.135569260T= | NCBI36 |
NG_007280.1:g.16259T= , LRG_141:g.16259T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*424T= | ENSP00000512122.1:n.*424T= | |
ENST00000695725.1:c.*361T= | ENSP00000512123.1:n.*361T= | |
ENST00000695726.1:n.2774T= | ||
ENST00000695729.1:n.3609T= | ||
ENST00000370629.7:c.*20T= MANE Select | ENSP00000359663.2:n.*20T= | |
ENST00000370628.2:c.*20T= | ENSP00000359662.2:n.*20T= | |
ENST00000370629.6:c.*20T= | ENSP00000359663.2:n.*20T= | |
NM_000074.2:c.*20T= , LRG_141t1:c.*20T= | NP_000065.1:n.*20T= | |
NM_000074.3:c.*20T= MANE Select | NP_000065.1:n.*20T= |