HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659268T>C , CM000685.2:g.136659268T>C | GRCh38 |
NC_000023.10:g.135741427T>C , CM000685.1:g.135741427T>C | GRCh37 |
NC_000023.9:g.135569093T>C | NCBI36 |
NG_007280.1:g.16092T>C , LRG_141:g.16092T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*257T>C | ENSP00000512122.1:n.*257T>C | |
ENST00000695725.1:c.*194T>C | ENSP00000512123.1:n.*194T>C | |
ENST00000695726.1:n.2607T>C | ||
ENST00000695729.1:n.3442T>C | ||
ENST00000370629.7:c.639T>C MANE Select | ENSP00000359663.2:p.Ser213= | |
ENST00000370628.2:c.576T>C | ENSP00000359662.2:p.Ser192= | |
ENST00000370629.6:c.639T>C | ENSP00000359663.2:p.Ser213= | |
NM_000074.2:c.639T>C , LRG_141t1:c.639T>C | NP_000065.1:p.Ser213= | |
NM_000074.3:c.639T>C MANE Select | NP_000065.1:p.Ser213= |