HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23429048C>A , CM000676.2:g.23429048C>A | GRCh38 |
NC_000014.8:g.23898257C>A , CM000676.1:g.23898257C>A | GRCh37 |
NC_000014.7:g.22968097C>A | NCBI36 |
NG_007884.1:g.11614G>T , LRG_384:g.11614G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.1314G>T MANE Select | ENSP00000347507.3:p.Trp438Cys | |
ENST00000355349.3:c.1314G>T | ENSP00000347507.3:p.Trp438Cys | |
NM_000257.3:c.1314G>T | NP_000248.2:p.Trp438Cys | |
XR_245686.3:n.1420G>T | ||
XM_017021340.1:c.1314G>T | XP_016876829.1:p.Trp438Cys | |
NM_000257.4:c.1314G>T MANE Select | NP_000248.2:p.Trp438Cys |