Linked Data
ClinVar Variation Id:
487617
ClinVar RCV Id:
RCV000656192
dbSNP Id:
rs142883085
ExAC:
1:183099502 C / T
gnomAD v2:
1-183099502-C-T
gnomAD v3:
1-183130367-C-T
gnomAD v4:
1-183130367-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183130367C>T , CM000663.2:g.183130367C>T | GRCh38 |
| NC_000001.10:g.183099502C>T , CM000663.1:g.183099502C>T | GRCh37 |
| NC_000001.9:g.181366125C>T | NCBI36 |
| NG_011463.1:g.111908C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258341.5:c.3304C>T MANE Select | ENSP00000258341.3:p.Arg1102Cys | |
| ENST00000258341.4:c.3304C>T | ENSP00000258341.3:p.Arg1102Cys | |
| ENST00000478064.1:n.249C>T | ||
| NM_002293.3:c.3304C>T | NP_002284.3:p.Arg1102Cys | |
| NM_002293.4:c.3304C>T MANE Select | NP_002284.3:p.Arg1102Cys |