HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110602118G>C , CM000672.2:g.110602118G>C | GRCh38 |
NC_000010.10:g.112361876G>C , CM000672.1:g.112361876G>C | GRCh37 |
NC_000010.9:g.112351866G>C | NCBI36 |
NG_012217.1:g.39428G>C , LRG_774:g.39428G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.5278G>C | ||
ENST00000685743.1:n.2753G>C | ||
ENST00000686057.1:n.1396G>C | ||
ENST00000689321.1:n.2008G>C | ||
ENST00000689986.1:n.834G>C | ||
ENST00000361804.5:c.3045G>C MANE Select | ENSP00000354720.5:p.Met1015Ile | |
ENST00000361804.4:c.3045G>C | ENSP00000354720.4:p.Met1015Ile | |
NM_005445.3:c.3045G>C , LRG_774t1:c.3045G>C | NP_005436.1:p.Met1015Ile | |
NM_005445.4:c.3045G>C MANE Select | NP_005436.1:p.Met1015Ile |