Linked Data
ClinVar Variation Id:
2652099
ClinVar RCV Id:
RCV003431210
dbSNP Id:
rs781304998
ExAC:
2:241818157 C / T
gnomAD v2:
2-241818157-C-T
gnomAD v4:
2-240878740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878740C>T , CM000664.2:g.240878740C>T | GRCh38 |
| NC_000002.11:g.241818157C>T , CM000664.1:g.241818157C>T | GRCh37 |
| NC_000002.10:g.241466830C>T | NCBI36 |
| NG_008005.1:g.14996C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1098C>T MANE Select | ENSP00000302620.3:p.Cys366= | |
| ENST00000307503.3:c.1098C>T | ENSP00000302620.3:p.Cys366= | |
| ENST00000470255.1:n.876C>T | ||
| NM_000030.2:c.1098C>T | NP_000021.1:p.Cys366= | |
| NM_000030.3:c.1098C>T MANE Select | NP_000021.1:p.Cys366= |