Linked Data
ClinVar Variation Id:
439226
dbSNP Id:
rs760830761
ExAC:
12:103232998 T / C
gnomAD v2:
12-103232998-T-C
gnomAD v3:
12-102839220-T-C
gnomAD v4:
12-102839220-T-C
ERepo:
CA6748680/MONDO:0009861/006
PubMed:
PMID:26322415
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102839220T>C , CM000674.2:g.102839220T>C | GRCh38 |
| NC_000012.11:g.103232998T>C , CM000674.1:g.103232998T>C | GRCh37 |
| NC_000012.10:g.101757128T>C | NCBI36 |
| NG_008690.1:g.83383A>G | |
| NG_008690.2:g.124191A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1316-2A>G MANE Select | ENSP00000448059.1:n.1316-2A>G | |
| ENST00000307000.7:c.1301-2A>G | ENSP00000303500.2:n.1301-2A>G | |
| ENST00000551114.2:n.978-2A>G | ||
| ENST00000553106.5:c.1316-2A>G | ENSP00000448059.1:n.1316-2A>G | |
| ENST00000635477.1:c.420-2A>G | ||
| ENST00000635528.1:n.831-2A>G | ||
| NM_000277.1:c.1316-2A>G | NP_000268.1:n.1316-2A>G | |
| XM_011538422.1:c.1259-2A>G | XP_011536724.1:n.1259-2A>G | |
| NM_000277.2:c.1316-2A>G | NP_000268.1:n.1316-2A>G | |
| NM_001354304.1:c.1316-2A>G | NP_001341233.1:n.1316-2A>G | |
| NM_000277.3:c.1316-2A>G MANE Select | NP_000268.1:n.1316-2A>G | |
| NM_001354304.2:c.1316-2A>G | NP_001341233.1:n.1316-2A>G |