Linked Data
ClinVar Variation Id:
2420863
ClinVar RCV Id:
RCV003122028
dbSNP Id:
rs751816384
ExAC:
1:1168001 C / T
gnomAD v2:
1-1168001-C-T
gnomAD v3:
1-1232621-C-T
gnomAD v4:
1-1232621-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232621C>T , CM000663.2:g.1232621C>T | GRCh38 |
| NC_000001.10:g.1168001C>T , CM000663.1:g.1168001C>T | GRCh37 |
| NC_000001.9:g.1157864C>T | NCBI36 |
| NG_030007.1:g.4447G>A | |
| NG_033265.1:g.5373C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.343C>T MANE Select | ENSP00000368496.2:p.Arg115Trp | |
| ENST00000379198.3:c.343C>T | ENSP00000368496.2:p.Arg115Trp | |
| NM_080605.3:c.343C>T | NP_542172.2:p.Arg115Trp | |
| NM_080605.4:c.343C>T MANE Select | NP_542172.2:p.Arg115Trp |