Linked Data
ClinVar Variation Id:
204049
ClinVar RCV Id:
RCV001682893
dbSNP Id:
rs12464426
ExAC:
2:241815308 A / G
gnomAD v2:
2-241815308-A-G
gnomAD v3:
2-240875891-A-G
gnomAD v4:
2-240875891-A-G
PubMed:
PMID:17460142
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875891A>G , CM000664.2:g.240875891A>G | GRCh38 |
| NC_000002.11:g.241815308A>G , CM000664.1:g.241815308A>G | GRCh37 |
| NC_000002.10:g.241463981A>G | NCBI36 |
| NG_008005.1:g.12147A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.777-44A>G MANE Select | ENSP00000302620.3:n.777-44A>G | |
| ENST00000307503.3:c.777-44A>G | ENSP00000302620.3:n.777-44A>G | |
| ENST00000476698.1:n.429-44A>G | ||
| NM_000030.2:c.777-44A>G | NP_000021.1:n.777-44A>G | |
| NM_000030.3:c.777-44A>G MANE Select | NP_000021.1:n.777-44A>G |