HGVS | Genome Assembly |
---|---|
NC_000013.11:g.27924290G>T , CM000675.2:g.27924290G>T | GRCh38 |
NC_000013.10:g.28498427G>T , CM000675.1:g.28498427G>T | GRCh37 |
NC_000013.9:g.27396427G>T | NCBI36 |
NG_008183.1:g.9260G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381033.5:c.441G>T MANE Select | ENSP00000370421.4:p.Lys147Asn | |
ENST00000381033.4:c.441G>T | ENSP00000370421.4:p.Lys147Asn | |
NM_000209.3:c.441G>T | NP_000200.1:p.Lys147Asn | |
XR_941578.1:n.3568G>T | ||
XR_941579.1:n.2167G>T | ||
XR_941580.1:n.1083G>T | ||
XR_941578.2:n.3580G>T | ||
XR_941580.2:n.1095G>T | ||
NM_000209.4:c.441G>T MANE Select | NP_000200.1:p.Lys147Asn |