Linked Data
ClinVar Variation Id:
2883545
ClinVar RCV Id:
RCV003722023
dbSNP Id:
rs544329093
gnomAD v2:
19-49096020-C-T
gnomAD v3:
19-48592763-C-T
gnomAD v4:
19-48592763-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48592763C>T , CM000681.2:g.48592763C>T | GRCh38 |
| NC_000019.9:g.49096020C>T , CM000681.1:g.49096020C>T | GRCh37 |
| NC_000019.8:g.53787832C>T | NCBI36 |
| NG_029063.1:g.45592C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201586.7:c.592C>T MANE Select | ENSP00000201586.2:p.Arg198Trp | |
| ENST00000201586.6:c.592C>T | ENSP00000201586.1:p.Arg198Trp | |
| ENST00000323090.4:c.547C>T | ENSP00000312880.3:p.Arg183Trp | |
| ENST00000594274.1:n.342C>T | ||
| NM_004605.2:c.547C>T | NP_004596.2:p.Arg183Trp | |
| NM_177973.1:c.592C>T | NP_814444.1:p.Arg198Trp | |
| XM_005259182.2:c.160C>T | XP_005259239.1:p.Arg54Trp | |
| NM_177973.2:c.592C>T MANE Select | NP_814444.1:p.Arg198Trp |