HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951909G>C , CM000670.2:g.19951909G>C | GRCh38 |
NC_000008.10:g.19809420G>C , CM000670.1:g.19809420G>C | GRCh37 |
NC_000008.9:g.19853700G>C | NCBI36 |
NG_008855.1:g.17839G>C | |
NG_008855.2:g.55193G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.390G>C MANE Select | ENSP00000497642.1:p.Leu130= | |
ENST00000311322.8:c.390G>C | ENSP00000309757.6:p.Leu130= | |
ENST00000520959.5:c.162G>C | ENSP00000428496.1:p.Leu54= | |
NM_000237.2:c.390G>C | NP_000228.1:p.Leu130= | |
NM_000237.3:c.390G>C MANE Select | NP_000228.1:p.Leu130= |