Linked Data
ClinVar Variation Id:
1582711
ClinVar RCV Id:
RCV002091179
dbSNP Id:
rs1306874324
MyVariant Identifiers:
chr2:g.241818187G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878770G>A , CM000664.2:g.240878770G>A | GRCh38 |
| NC_000002.11:g.241818187G>A , CM000664.1:g.241818187G>A | GRCh37 |
| NC_000002.10:g.241466860G>A | NCBI36 |
| NG_008005.1:g.15026G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1128G>A MANE Select | ENSP00000302620.3:p.Val376= | |
| ENST00000307503.3:c.1128G>A | ENSP00000302620.3:p.Val376= | |
| ENST00000470255.1:n.906G>A | ||
| NM_000030.2:c.1128G>A | NP_000021.1:p.Val376= | |
| NM_000030.3:c.1128G>A MANE Select | NP_000021.1:p.Val376= |