Linked Data
ClinVar Variation Id:
8251
ClinVar RCV Id:
RCV002362571
dbSNP Id:
rs121909287
gnomAD v4:
12-51916218-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51916218C>T , CM000674.2:g.51916218C>T | GRCh38 |
| NC_000012.11:g.52310002C>T , CM000674.1:g.52310002C>T | GRCh37 |
| NC_000012.10:g.50596269C>T | NCBI36 |
| NG_009549.1:g.13801C>T , LRG_543:g.13801C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.961C>T | ENSP00000446724.2:p.Arg321Trp | |
| ENST00000551576.6:c.1231C>T | ENSP00000455848.2:p.Arg411Trp | |
| ENST00000552678.2:c.1231C>T | ENSP00000457394.2:p.Arg411Trp | |
| ENST00000388922.9:c.1231C>T MANE Select | ENSP00000373574.4:p.Arg411Trp | |
| ENST00000388922.8:c.1231C>T | ENSP00000373574.4:p.Arg411Trp | |
| ENST00000419526.6:c.709C>T | ENSP00000392492.2:p.Arg237Trp | |
| ENST00000547632.1:n.506C>T | ||
| ENST00000550683.5:c.1273C>T | ENSP00000447884.1:p.Arg425Trp | |
| ENST00000552678.1:c.236C>T | ||
| NM_000020.2:c.1231C>T , LRG_543t1:c.1231C>T | NP_000011.2:p.Arg411Trp | |
| NM_001077401.1:c.1231C>T | NP_001070869.1:p.Arg411Trp | |
| XM_005269235.2:c.1231C>T | XP_005269292.1:p.Arg411Trp | |
| XM_011539008.1:c.961C>T | XP_011537310.1:p.Arg321Trp | |
| XM_024449279.1:c.442C>T | XP_024305047.1:p.Arg148Trp | |
| NM_000020.3:c.1231C>T MANE Select | NP_000011.2:p.Arg411Trp | |
| NM_001077401.2:c.1231C>T | NP_001070869.1:p.Arg411Trp |