Linked Data
ClinVar Variation Id:
64423
dbSNP Id:
rs201265160
ExAC:
17:42327861 G / A
gnomAD v2:
17-42327861-G-A
gnomAD v3:
17-44250493-G-A
gnomAD v4:
17-44250493-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44250493G>A , CM000679.2:g.44250493G>A | GRCh38 |
| NC_000017.10:g.42327861G>A , CM000679.1:g.42327861G>A | GRCh37 |
| NC_000017.9:g.39683387G>A | NCBI36 |
| NG_007498.1:g.22642C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.2701C>T MANE Select | ENSP00000262418.6:p.Arg901Trp | |
| ENST00000262418.10:c.2701C>T | ENSP00000262418.6:p.Arg901Trp | |
| ENST00000399246.3:c.1603C>T | ENSP00000382190.3:p.Arg535Trp | |
| NM_000342.3:c.2701C>T | NP_000333.1:p.Arg901Trp | |
| XM_005257593.3:c.2506C>T | XP_005257650.1:p.Arg836Trp | |
| XM_011525129.1:c.2611C>T | XP_011523431.1:p.Arg871Trp | |
| XM_005257593.5:c.2506C>T | XP_005257650.1:p.Arg836Trp | |
| XM_011525129.2:c.2611C>T | XP_011523431.1:p.Arg871Trp | |
| NM_000342.4:c.2701C>T MANE Select | NP_000333.1:p.Arg901Trp |