Linked Data
ClinVar Variation Id:
20
ClinVar RCV Id:
RCV000000037
dbSNP Id:
rs397515534
ExAC:
2:20189045 T / C
gnomAD v2:
2-20189045-T-C
gnomAD v3:
2-19989284-T-C
gnomAD v4:
2-19989284-T-C
PubMed:
PMID:20817137
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19989284T>C , CM000664.2:g.19989284T>C | GRCh38 |
| NC_000002.11:g.20189045T>C , CM000664.1:g.20189045T>C | GRCh37 |
| NC_000002.10:g.20052526T>C | NCBI36 |
| NG_021212.1:g.5840A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.25-2A>G MANE Select | ENSP00000281405.5:n.25-2A>G | |
| ENST00000345530.8:c.25-2A>G MANE Plus Clinical | ENSP00000314444.5:n.25-2A>G | |
| ENST00000281405.8:c.25-2A>G | ENSP00000281405.4:n.25-2A>G | |
| ENST00000345530.7:c.25-2A>G | ENSP00000314444.5:n.25-2A>G | |
| ENST00000414212.5:c.25-2A>G | ENSP00000390802.1:n.25-2A>G | |
| NM_001006657.1:c.25-2A>G | NP_001006658.1:n.25-2A>G | |
| NM_020779.3:c.25-2A>G | NP_065830.2:n.25-2A>G | |
| XR_426989.2:n.58-2A>G | ||
| XR_939699.1:n.58-2A>G | ||
| XR_001738862.1:n.58-2A>G | ||
| XR_426989.3:n.58-2A>G | ||
| XR_939699.3:n.58-2A>G | ||
| NM_001006657.2:c.25-2A>G MANE Plus Clinical | NP_001006658.1:n.25-2A>G | |
| NM_020779.4:c.25-2A>G MANE Select | NP_065830.2:n.25-2A>G |