HGVS | Genome Assembly |
---|---|
NC_000001.11:g.109264315A>C , CM000663.2:g.109264315A>C | GRCh38 |
NC_000001.10:g.109806937A>C , CM000663.1:g.109806937A>C | GRCh37 |
NC_000001.9:g.109608460A>C | NCBI36 |
NG_052669.1:g.19611A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000271332.4:c.5239A>C MANE Select | ENSP00000271332.3:p.Ile1747Leu | |
ENST00000271332.3:c.5239A>C | ENSP00000271332.3:p.Ile1747Leu | |
NM_001408.2:c.5239A>C | NP_001399.1:p.Ile1747Leu | |
XM_005270580.3:c.5239A>C | XP_005270637.1:p.Ile1747Leu | |
NM_001408.3:c.5239A>C MANE Select | NP_001399.1:p.Ile1747Leu |