HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189050301T>C , CM000664.2:g.189050301T>C | GRCh38 |
NC_000002.11:g.189915027T>C , CM000664.1:g.189915027T>C | GRCh37 |
NC_000002.10:g.189623272T>C | NCBI36 |
NG_011799.1:g.134579A>G | |
NG_011799.2:g.134579A>G | |
NG_011799.3:g.180001A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.3039+268A>G MANE Select | ENSP00000364000.3:n.3039+268A>G | |
ENST00000374866.7:c.3039+268A>G | ENSP00000364000.3:n.3039+268A>G | |
ENST00000618828.1:c.1878+268A>G | ENSP00000482184.1:n.1878+268A>G | |
NM_000393.3:c.3039+268A>G | NP_000384.2:n.3039+268A>G | |
XM_011510573.1:c.2901+268A>G | XP_011508875.1:n.2901+268A>G | |
NM_000393.4:c.3039+268A>G | NP_000384.2:n.3039+268A>G | |
XM_011510573.3:c.2901+268A>G | XP_011508875.1:n.2901+268A>G | |
NM_000393.5:c.3039+268A>G MANE Select | NP_000384.2:n.3039+268A>G |