HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154379402G>A , CM000685.2:g.154379402G>A | GRCh38 |
NC_000023.10:g.153607762G>A , CM000685.1:g.153607762G>A | GRCh37 |
NC_000023.9:g.153260956G>A | NCBI36 |
NG_008677.1:g.9967G>A , LRG_745:g.9967G>A | |
NG_011506.1:g.245C>T | |
NG_011506.2:g.237C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369842.9:c.-83G>A MANE Select | ENSP00000358857.4:n.-83G>A | |
ENST00000369835.3:c.-83G>A | ENSP00000358850.3:n.-83G>A | |
ENST00000369842.8:c.-83G>A | ENSP00000358857.4:n.-83G>A | |
ENST00000428228.5:c.-83G>A | ENSP00000401081.1:n.-83G>A | |
ENST00000486738.5:n.62G>A | ||
NM_000117.2:c.-83G>A , LRG_745t1:c.-83G>A | NP_000108.1:n.-83G>A | |
XM_024452349.1:c.-291G>A | XP_024308117.1:n.-291G>A | |
NM_000117.3:c.-83G>A MANE Select | NP_000108.1:n.-83G>A |