HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110601850C>T , CM000672.2:g.110601850C>T | GRCh38 |
NC_000010.10:g.112361608C>T , CM000672.1:g.112361608C>T | GRCh37 |
NC_000010.9:g.112351598C>T | NCBI36 |
NG_012217.1:g.39160C>T , LRG_774:g.39160C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.5091C>T | ||
ENST00000685743.1:n.2566C>T | ||
ENST00000686057.1:n.1209C>T | ||
ENST00000689321.1:n.1821C>T | ||
ENST00000689986.1:n.647C>T | ||
ENST00000361804.5:c.2858C>T MANE Select | ENSP00000354720.5:p.Ala953Val | |
ENST00000361804.4:c.2858C>T | ENSP00000354720.4:p.Ala953Val | |
NM_005445.3:c.2858C>T , LRG_774t1:c.2858C>T | NP_005436.1:p.Ala953Val | |
NM_005445.4:c.2858C>T MANE Select | NP_005436.1:p.Ala953Val |