HGVS | Genome Assembly |
---|---|
NC_000002.12:g.233618556G>C , CM000664.2:g.233618556G>C | GRCh38 |
NC_000002.11:g.234527202G>C , CM000664.1:g.234527202G>C | GRCh37 |
NC_000002.10:g.234191941G>C | NCBI36 |
NG_002601.2:g.33813G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373450.5:c.849G>C MANE Select | ENSP00000362549.4:p.Leu283Phe | |
ENST00000373450.4:c.849G>C | ENSP00000362549.4:p.Leu283Phe | |
NM_019076.4:c.849G>C | NP_061949.3:p.Leu283Phe | |
NM_019076.5:c.849G>C MANE Select | NP_061949.3:p.Leu283Phe |