Linked Data
ClinVar Variation Id:
487673
ClinVar RCV Id:
RCV000577554
dbSNP Id:
rs184277092
gnomAD v3:
16-46669007-G-A
gnomAD v4:
16-46669007-G-A
PubMed:
PMID:28796472
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46669007G>A , CM000678.2:g.46669007G>A | GRCh38 |
| NC_000016.9:g.46702919G>A , CM000678.1:g.46702919G>A | GRCh37 |
| NC_000016.8:g.45260420G>A | NCBI36 |
| NG_029970.1:g.25226C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299138.12:c.1570C>T MANE Select | ENSP00000299138.7:p.Arg524Trp | |
| ENST00000647959.1:c.*1633C>T | ENSP00000497702.1:n.*1633C>T | |
| ENST00000299138.11:c.1570C>T | ENSP00000299138.7:p.Arg524Trp | |
| ENST00000562420.1:n.208C>T | ||
| ENST00000568784.6:c.*2240C>T | ENSP00000456274.2:n.*2240C>T | |
| NM_018206.4:c.1570C>T | NP_060676.2:p.Arg524Trp | |
| XM_005256045.2:c.1369C>T | XP_005256102.1:p.Arg457Trp | |
| XM_011523227.1:c.1483C>T | XP_011521529.1:p.Arg495Trp | |
| NM_018206.5:c.1570C>T | NP_060676.2:p.Arg524Trp | |
| XM_005256045.3:c.1369C>T | XP_005256102.1:p.Arg457Trp | |
| XM_011523227.3:c.1483C>T | XP_011521529.1:p.Arg495Trp | |
| NM_018206.6:c.1570C>T MANE Select | NP_060676.2:p.Arg524Trp |