Linked Data
ClinVar Variation Id:
2487204
ClinVar RCV Id:
RCV003195267
dbSNP Id:
rs201968777
ExAC:
1:222832089 C / T
gnomAD v2:
1-222832089-C-T
gnomAD v3:
1-222658747-C-T
gnomAD v4:
1-222658747-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.222658747C>T , CM000663.2:g.222658747C>T | GRCh38 |
| NC_000001.10:g.222832089C>T , CM000663.1:g.222832089C>T | GRCh37 |
| NC_000001.9:g.220898712C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344922.10:c.4633C>T MANE Select | ENSP00000340900.5:p.Arg1545Trp | |
| ENST00000340535.11:c.1267C>T | ENSP00000345866.7:p.Arg423Trp | |
| ENST00000344507.1:c.1475-6852C>T | ENSP00000341348.1:n.1475-6852C>T | |
| ENST00000344922.9:c.4633C>T | ENSP00000340900.5:p.Arg1545Trp | |
| ENST00000476400.1:n.106C>T | ||
| NM_001300867.1:c.1267C>T | NP_001287796.1:p.Arg423Trp | |
| NM_198551.3:c.4633C>T | NP_940953.2:p.Arg1545Trp | |
| XM_005273121.3:c.4633C>T | XP_005273178.1:p.Arg1545Trp | |
| XM_006711304.2:c.4456C>T | XP_006711367.1:p.Arg1486Trp | |
| NM_001324062.1:c.4633C>T | NP_001310991.1:p.Arg1545Trp | |
| NM_001324063.1:c.4456C>T | NP_001310992.1:p.Arg1486Trp | |
| NM_001324064.1:c.4141C>T | NP_001310993.1:p.Arg1381Trp | |
| NM_001324065.1:c.1267C>T | NP_001310994.1:p.Arg423Trp | |
| XM_006711304.4:c.4456C>T | XP_006711367.3:p.Arg1486Trp | |
| XM_017001243.2:c.4141C>T | XP_016856732.1:p.Arg1381Trp | |
| NM_198551.4:c.4633C>T MANE Select | NP_940953.2:p.Arg1545Trp | |
| NM_001300867.2:c.1267C>T | NP_001287796.1:p.Arg423Trp | |
| NM_001324062.2:c.4633C>T | NP_001310991.1:p.Arg1545Trp | |
| NM_001324063.2:c.4456C>T | NP_001310992.1:p.Arg1486Trp | |
| NM_001324064.2:c.4141C>T | NP_001310993.1:p.Arg1381Trp | |
| NM_001324065.2:c.1267C>T | NP_001310994.1:p.Arg423Trp |