Linked Data
ClinVar Variation Id:
7422
ClinVar RCV Id:
RCV001244346
dbSNP Id:
rs104894673
gnomAD v2:
19-48342592-C-T
gnomAD v3:
19-47839335-C-T
gnomAD v4:
19-47839335-C-T
COSMIC:
COSM1681166
PubMed:
PMID:9931337
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47839335C>T , CM000681.2:g.47839335C>T | GRCh38 |
| NC_000019.9:g.48342592C>T , CM000681.1:g.48342592C>T | GRCh37 |
| NC_000019.8:g.53034404C>T | NCBI36 |
| NG_008605.1:g.22494C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000221996.12:c.268C>T MANE Select | ENSP00000221996.5:p.Arg90Trp | |
| ENST00000221996.11:c.268C>T | ENSP00000221996.5:p.Arg90Trp | |
| ENST00000539067.5:c.268C>T | ENSP00000445565.1:p.Arg90Trp | |
| ENST00000613299.1:c.116C>T | ENSP00000478106.1:p.Pro39Leu | |
| NM_000554.4:c.268C>T | NP_000545.1:p.Arg90Trp | |
| NM_000554.5:c.268C>T | NP_000545.1:p.Arg90Trp | |
| NM_000554.6:c.268C>T MANE Select | NP_000545.1:p.Arg90Trp |