Linked Data
dbSNP Id:
rs757503242
ExAC:
5:136963998 G / A
gnomAD v2:
5-136963998-G-A
gnomAD v3:
5-137628309-G-A
gnomAD v4:
5-137628309-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137628309G>A , CM000667.2:g.137628309G>A | GRCh38 |
| NC_000005.9:g.136963998G>A , CM000667.1:g.136963998G>A | GRCh37 |
| NC_000005.8:g.136991897G>A | NCBI36 |
| NG_032569.1:g.112782C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.1579C>T MANE Select | ENSP00000312397.4:p.Arg527Trp | |
| ENST00000309755.8:c.1579C>T | ENSP00000312397.4:p.Arg527Trp | |
| ENST00000447439.6:n.1635C>T | ||
| ENST00000504208.5:c.*463C>T | ENSP00000423585.1:n.*463C>T | |
| ENST00000506491.5:c.1333C>T | ENSP00000424828.1:p.Arg445Trp | |
| ENST00000506873.5:n.1102C>T | ||
| ENST00000508657.5:c.1483C>T | ENSP00000422099.1:p.Arg495Trp | |
| ENST00000509694.1:n.372C>T | ||
| NM_001257194.1:c.1483C>T | NP_001244123.1:p.Arg495Trp | |
| NM_001257195.1:c.1333C>T | NP_001244124.1:p.Arg445Trp | |
| NM_017415.2:c.1579C>T | NP_059111.2:p.Arg527Trp | |
| NM_017415.3:c.1579C>T MANE Select | NP_059111.2:p.Arg527Trp | |
| NM_001257195.2:c.1333C>T | NP_001244124.1:p.Arg445Trp |