Linked Data
ClinVar Variation Id:
17517
ClinVar RCV Id:
RCV000019069
dbSNP Id:
rs72547508
ExAC:
15:74632028 G / A
gnomAD v2:
15-74632028-G-A
gnomAD v3:
15-74339687-G-A
gnomAD v4:
15-74339687-G-A
PubMed:
PMID:12161514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74339687G>A , CM000677.2:g.74339687G>A | GRCh38 |
| NC_000015.9:g.74632028G>A , CM000677.1:g.74632028G>A | GRCh37 |
| NC_000015.8:g.72419081G>A | NCBI36 |
| NG_007973.1:g.33055C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268053.11:c.1057C>T MANE Select | ENSP00000268053.6:p.Arg353Trp | |
| ENST00000268053.10:c.1057C>T | ENSP00000268053.6:p.Arg353Trp | |
| ENST00000358632.8:c.583C>T | ENSP00000351455.4:p.Arg195Trp | |
| ENST00000435365.5:c.1057C>T | ENSP00000391081.1:p.Arg353Trp | |
| ENST00000566674.5:c.583C>T | ENSP00000456941.1:p.Arg195Trp | |
| NM_000781.2:c.1057C>T | NP_000772.2:p.Arg353Trp | |
| NM_001099773.1:c.583C>T | NP_001093243.1:p.Arg195Trp | |
| NM_000781.3:c.1057C>T MANE Select | NP_000772.2:p.Arg353Trp | |
| NM_001099773.2:c.583C>T | NP_001093243.1:p.Arg195Trp |