MyVariant.info:
GRCh37
chr17:g.33428225G>T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35101206G>T , CM000679.2:g.35101206G>T | GRCh38 |
| NC_000017.10:g.33428225G>T , CM000679.1:g.33428225G>T | GRCh37 |
| NC_000017.9:g.30452338G>T | NCBI36 |
| NG_031858.1:g.23664C>A , LRG_516:g.23664C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.763C>A | ENSP00000468273.3:p.Arg255= | |
| ENST00000587405.6:c.541C>A | ENSP00000466478.2:p.Arg181= | |
| ENST00000590016.6:c.958C>A | ENSP00000466399.1:p.Arg320= | |
| ENST00000592577.6:c.541C>A | ENSP00000466839.2:p.Arg181= | |
| ENST00000345365.11:c.898C>A MANE Select | ENSP00000338790.6:p.Arg300= | |
| ENST00000335858.11:c.562C>A | ENSP00000338408.6:p.Arg188= | |
| ENST00000345365.10:c.898C>A | ENSP00000338790.6:p.Arg300= | |
| ENST00000394589.8:c.898C>A | ENSP00000378090.4:p.Arg300= | |
| ENST00000460118.6:c.367C>A | ENSP00000464356.2:p.Arg123= | |
| ENST00000586044.5:c.*629C>A | ENSP00000465584.1:n.*629C>A | |
| ENST00000586210.5:c.*492C>A | ENSP00000465612.1:n.*492C>A | |
| ENST00000587977.5:c.*638C>A | ENSP00000466587.1:n.*638C>A | |
| ENST00000588372.5:c.*381C>A | ENSP00000468764.1:n.*381C>A | |
| ENST00000588594.5:c.*494C>A | ENSP00000465366.1:n.*494C>A | |
| ENST00000590016.5:c.958C>A | ENSP00000466399.1:p.Arg320= | |
| ENST00000591723.5:c.367C>A | ENSP00000467986.1:p.Arg123= | |
| ENST00000592181.1:c.541C>A | ENSP00000464799.1:p.Arg181= | |
| ENST00000593039.5:c.421C>A | ENSP00000466834.1:p.Arg141= | |
| NM_001142571.1:c.958C>A | NP_001136043.1:p.Arg320= | |
| NM_002878.3:c.898C>A , LRG_516t1:c.898C>A | NP_002869.3:p.Arg300= | |
| NM_133629.2:c.562C>A | NP_598332.1:p.Arg188= | |
| NR_037711.1:n.1035C>A | ||
| NR_037712.1:n.900C>A | ||
| NR_037714.1:n.650C>A | ||
| NM_001142571.2:c.958C>A | NP_001136043.1:p.Arg320= | |
| NM_133629.3:c.562C>A | NP_598332.1:p.Arg188= | |
| NR_037711.2:n.924C>A | ||
| NR_037712.2:n.789C>A | ||
| NM_002878.4:c.898C>A MANE Select | NP_002869.3:p.Arg300= |