HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659242T>C , CM000685.2:g.136659242T>C | GRCh38 |
NC_000023.10:g.135741401T>C , CM000685.1:g.135741401T>C | GRCh37 |
NC_000023.9:g.135569067T>C | NCBI36 |
NG_007280.1:g.16066T>C , LRG_141:g.16066T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695724.1:c.*231T>C | ENSP00000512122.1:n.*231T>C | |
ENST00000695725.1:c.*168T>C | ENSP00000512123.1:n.*168T>C | |
ENST00000695726.1:n.2581T>C | ||
ENST00000695729.1:n.3416T>C | ||
ENST00000370629.7:c.613T>C MANE Select | ENSP00000359663.2:p.Leu205= | |
ENST00000370628.2:c.550T>C | ENSP00000359662.2:p.Leu184= | |
ENST00000370629.6:c.613T>C | ENSP00000359663.2:p.Leu205= | |
NM_000074.2:c.613T>C , LRG_141t1:c.613T>C | NP_000065.1:p.Leu205= | |
NM_000074.3:c.613T>C MANE Select | NP_000065.1:p.Leu205= |