HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189050801A>G , CM000664.2:g.189050801A>G | GRCh38 |
NC_000002.11:g.189915527A>G , CM000664.1:g.189915527A>G | GRCh37 |
NC_000002.10:g.189623772A>G | NCBI36 |
NG_011799.1:g.134079T>C | |
NG_011799.2:g.134079T>C | |
NG_011799.3:g.179501T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.2932-125T>C MANE Select | ENSP00000364000.3:n.2932-125T>C | |
ENST00000374866.7:c.2932-125T>C | ENSP00000364000.3:n.2932-125T>C | |
ENST00000618828.1:c.1771-125T>C | ENSP00000482184.1:n.1771-125T>C | |
NM_000393.3:c.2932-125T>C | NP_000384.2:n.2932-125T>C | |
XM_011510573.1:c.2794-125T>C | XP_011508875.1:n.2794-125T>C | |
NM_000393.4:c.2932-125T>C | NP_000384.2:n.2932-125T>C | |
XM_011510573.3:c.2794-125T>C | XP_011508875.1:n.2794-125T>C | |
NM_000393.5:c.2932-125T>C MANE Select | NP_000384.2:n.2932-125T>C |