Linked Data
ClinVar Variation Id:
204115
ClinVar RCV Id:
RCV000186321
dbSNP Id:
rs180177246
ExAC:
2:241813402 C / A
gnomAD v2:
2-241813402-C-A
gnomAD v3:
2-240873985-C-A
gnomAD v4:
2-240873985-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873985C>A , CM000664.2:g.240873985C>A | GRCh38 |
| NC_000002.11:g.241813402C>A , CM000664.1:g.241813402C>A | GRCh37 |
| NC_000002.10:g.241462075C>A | NCBI36 |
| NG_008005.1:g.10241C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.603C>A MANE Select | ENSP00000302620.3:p.Asp201Glu | |
| ENST00000307503.3:c.603C>A | ENSP00000302620.3:p.Asp201Glu | |
| ENST00000476698.1:n.332+936C>A | ||
| NM_000030.2:c.603C>A | NP_000021.1:p.Asp201Glu | |
| NM_000030.3:c.603C>A MANE Select | NP_000021.1:p.Asp201Glu |