HGVS | Genome Assembly |
---|---|
NC_000012.12:g.49950978T>C , CM000674.2:g.49950978T>C | GRCh38 |
NC_000012.11:g.50344761T>C , CM000674.1:g.50344761T>C | GRCh37 |
NC_000012.10:g.48631028T>C | NCBI36 |
NG_008913.1:g.5238T>C , LRG_717:g.5238T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000199280.4:c.148T>C MANE Select | ENSP00000199280.3:p.Leu50= | |
ENST00000199280.3:c.148T>C | ENSP00000199280.3:p.Leu50= | |
ENST00000550862.1:c.148T>C | ENSP00000450022.1:p.Leu50= | |
ENST00000551526.5:c.148T>C | ENSP00000447148.1:p.Leu50= | |
NM_000486.5:c.148T>C , LRG_717t1:c.148T>C | NP_000477.1:p.Leu50= | |
NM_000486.6:c.148T>C MANE Select | NP_000477.1:p.Leu50= |