HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189050320C>A , CM000664.2:g.189050320C>A | GRCh38 |
NC_000002.11:g.189915046C>A , CM000664.1:g.189915046C>A | GRCh37 |
NC_000002.10:g.189623291C>A | NCBI36 |
NG_011799.1:g.134560G>T | |
NG_011799.2:g.134560G>T | |
NG_011799.3:g.179982G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.3039+249G>T MANE Select | ENSP00000364000.3:n.3039+249G>T | |
ENST00000374866.7:c.3039+249G>T | ENSP00000364000.3:n.3039+249G>T | |
ENST00000618828.1:c.1878+249G>T | ENSP00000482184.1:n.1878+249G>T | |
NM_000393.3:c.3039+249G>T | NP_000384.2:n.3039+249G>T | |
XM_011510573.1:c.2901+249G>T | XP_011508875.1:n.2901+249G>T | |
NM_000393.4:c.3039+249G>T | NP_000384.2:n.3039+249G>T | |
XM_011510573.3:c.2901+249G>T | XP_011508875.1:n.2901+249G>T | |
NM_000393.5:c.3039+249G>T MANE Select | NP_000384.2:n.3039+249G>T |