HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67436683A>C , CM000678.2:g.67436683A>C | GRCh38 |
NC_000016.9:g.67470586A>C , CM000678.1:g.67470586A>C | GRCh37 |
NC_000016.8:g.66028087A>C | NCBI36 |
NG_011482.1:g.49504T>G | |
NG_016549.1:g.10551A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326152.6:c.898A>C MANE Select | ENSP00000316786.5:p.Ile300Leu | |
ENST00000326152.5:c.898A>C | ENSP00000316786.5:p.Ile300Leu | |
NM_000196.3:c.898A>C | NP_000187.3:p.Ile300Leu | |
NM_000196.4:c.898A>C MANE Select | NP_000187.3:p.Ile300Leu |