HGVS | Genome Assembly |
---|---|
NC_000006.12:g.158192004G>C , CM000668.2:g.158192004G>C | GRCh38 |
NC_000006.11:g.158613036G>C , CM000668.1:g.158613036G>C | GRCh37 |
NC_000006.10:g.158533024G>C | NCBI36 |
NG_011758.1:g.28658G>C , LRG_469:g.28658G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000684993.1:n.122G>C | ||
ENST00000689018.1:n.41-1206G>C | ||
ENST00000689809.1:c.63G>C | ENSP00000510752.1:p.Leu21= | |
ENST00000691867.1:c.63G>C | ENSP00000510706.1:p.Leu21= | |
ENST00000607778.2:c.63G>C MANE Select | ENSP00000476100.1:p.Leu21= | |
ENST00000648328.1:c.*28G>C | ENSP00000497338.1:n.*28G>C | |
ENST00000607778.1:c.63G>C | ENSP00000476100.1:p.Leu21= | |
NM_207118.2:c.63G>C , LRG_469t1:c.63G>C | NP_997001.1:p.Leu21= | |
XM_017010862.1:c.93G>C | XP_016866351.1:p.Leu31= | |
NM_207118.3:c.63G>C MANE Select | NP_997001.1:p.Leu21= |