Linked Data
ClinVar Variation Id:
48268
dbSNP Id:
rs111033455
ExAC:
2:26683617 T / C
gnomAD v2:
2-26683617-T-C
gnomAD v3:
2-26460749-T-C
gnomAD v4:
2-26460749-T-C
PubMed:
PMID:22575033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26460749T>C , CM000664.2:g.26460749T>C | GRCh38 |
| NC_000002.11:g.26683617T>C , CM000664.1:g.26683617T>C | GRCh37 |
| NC_000002.10:g.26537121T>C | NCBI36 |
| NG_009937.1:g.102950A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.5713-2A>G MANE Select | ENSP00000272371.2:n.5713-2A>G | |
| ENST00000339598.8:c.3412-2A>G MANE Plus Clinical | ENSP00000344521.3:n.3412-2A>G | |
| ENST00000402415.8:c.3472-2A>G | ENSP00000383906.4:n.3472-2A>G | |
| ENST00000272371.6:c.5713-2A>G | ENSP00000272371.2:n.5713-2A>G | |
| ENST00000338581.10:c.3412-2A>G | ENSP00000345137.6:n.3412-2A>G | |
| ENST00000339598.7:c.3412-2A>G | ENSP00000344521.3:n.3412-2A>G | |
| ENST00000402415.7:c.3643-2A>G | ENSP00000383906.3:n.3643-2A>G | |
| ENST00000403946.7:c.5713-2A>G | ENSP00000385255.3:n.5713-2A>G | |
| NM_001287489.1:c.5713-2A>G | NP_001274418.1:n.5713-2A>G | |
| NM_004802.3:c.3412-2A>G | NP_004793.2:n.3412-2A>G | |
| NM_194248.2:c.5713-2A>G | NP_919224.1:n.5713-2A>G | |
| NM_194322.2:c.3643-2A>G | NP_919303.1:n.3643-2A>G | |
| NM_194323.2:c.3412-2A>G | NP_919304.1:n.3412-2A>G | |
| XM_005264644.2:c.5698-2A>G | XP_005264701.1:n.5698-2A>G | |
| XM_011533185.1:c.5758-2A>G | XP_011531487.1:n.5758-2A>G | |
| XM_017005338.1:c.5653-2A>G | XP_016860827.1:n.5653-2A>G | |
| NM_001287489.2:c.5713-2A>G | NP_001274418.1:n.5713-2A>G | |
| NM_004802.4:c.3412-2A>G | NP_004793.2:n.3412-2A>G | |
| NM_194248.3:c.5713-2A>G MANE Select | NP_919224.1:n.5713-2A>G | |
| NM_194322.3:c.3643-2A>G | NP_919303.1:n.3643-2A>G | |
| NM_194323.3:c.3412-2A>G MANE Plus Clinical | NP_919304.1:n.3412-2A>G |