HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110601641G>C , CM000672.2:g.110601641G>C | GRCh38 |
NC_000010.10:g.112361399G>C , CM000672.1:g.112361399G>C | GRCh37 |
NC_000010.9:g.112351389G>C | NCBI36 |
NG_012217.1:g.38951G>C , LRG_774:g.38951G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.4882G>C | ||
ENST00000685743.1:n.2357G>C | ||
ENST00000686057.1:n.1000G>C | ||
ENST00000689321.1:n.1612G>C | ||
ENST00000689986.1:n.438G>C | ||
ENST00000361804.5:c.2649G>C MANE Select | ENSP00000354720.5:p.Leu883Phe | |
ENST00000361804.4:c.2649G>C | ENSP00000354720.4:p.Leu883Phe | |
NM_005445.3:c.2649G>C , LRG_774t1:c.2649G>C | NP_005436.1:p.Leu883Phe | |
NM_005445.4:c.2649G>C MANE Select | NP_005436.1:p.Leu883Phe |