Linked Data
ClinVar Variation Id:
4840
dbSNP Id:
rs111033313
ExAC:
7:107323898 A / G
gnomAD v2:
7-107323898-A-G
gnomAD v3:
7-107683453-A-G
gnomAD v4:
7-107683453-A-G
PubMed:
PMID:10874637
PMID:11502831
PMID:12676893
PMID:14508505
PMID:14679580
PMID:15574297
PMID:15679828
PMID:16711435
PMID:16924389
PMID:17443271
PMID:17718863
PMID:18641518
PMID:19426954
PMID:19786220
PMID:20301640
PMID:20668687
PMID:23151025
PMID:23718755
PMID:24105851
ERepo:
CA261445/MONDO:0010134/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107683453A>G , CM000669.2:g.107683453A>G | GRCh38 |
| NC_000007.13:g.107323898A>G , CM000669.1:g.107323898A>G | GRCh37 |
| NC_000007.12:g.107111134A>G | NCBI36 |
| NG_008489.1:g.27819A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.919-2A>G MANE Select | ENSP00000494017.1:n.919-2A>G | |
| ENST00000265715.7:c.919-2A>G | ENSP00000265715.3:n.919-2A>G | |
| NM_000441.1:c.919-2A>G | NP_000432.1:n.919-2A>G | |
| XM_005250425.1:c.919-2A>G | XP_005250482.1:n.919-2A>G | |
| XM_006716025.2:c.919-2A>G | XP_006716088.1:n.919-2A>G | |
| XM_005250425.2:c.919-2A>G | XP_005250482.1:n.919-2A>G | |
| XM_006716025.3:c.919-2A>G | XP_006716088.1:n.919-2A>G | |
| XM_017012318.1:c.919-2A>G | XP_016867807.1:n.919-2A>G | |
| NM_000441.2:c.919-2A>G MANE Select | NP_000432.1:n.919-2A>G |