HGVS | Genome Assembly |
---|---|
NC_000022.11:g.29480425G>C , CM000684.2:g.29480425G>C | GRCh38 |
NC_000022.10:g.29876414G>C , CM000684.1:g.29876414G>C | GRCh37 |
NC_000022.9:g.28206414G>C | NCBI36 |
NG_008404.1:g.5234G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310624.7:c.163G>C MANE Select | ENSP00000311997.6:p.Val55Leu | |
ENST00000310624.6:c.163G>C | ENSP00000311997.6:p.Val55Leu | |
NM_021076.3:c.163G>C | NP_066554.2:p.Val55Leu | |
XM_011530200.1:c.163G>C | XP_011528502.1:p.Val55Leu | |
XM_011530200.2:c.163G>C | XP_011528502.1:p.Val55Leu | |
NM_021076.4:c.163G>C MANE Select | NP_066554.2:p.Val55Leu |