Linked Data
ClinVar Variation Id:
2144676
ClinVar RCV Id:
RCV003071053
dbSNP Id:
rs1475864348
gnomAD v3:
3-128483376-A-G
gnomAD v4:
3-128483376-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128483376A>G , CM000665.2:g.128483376A>G | GRCh38 |
| NC_000003.11:g.128202219A>G , CM000665.1:g.128202219A>G | GRCh37 |
| NC_000003.10:g.129684909A>G | NCBI36 |
| NG_029334.1:g.14812T>C , LRG_295:g.14812T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1017+484T>C MANE Plus Clinical | ENSP00000417074.1:n.1017+484T>C | |
| ENST00000696466.1:c.1299+484T>C | ENSP00000512647.1:n.1299+484T>C | |
| ENST00000341105.7:c.1017+484T>C MANE Select | ENSP00000345681.2:n.1017+484T>C | |
| ENST00000341105.6:c.1017+484T>C | ENSP00000345681.2:n.1017+484T>C | |
| ENST00000430265.6:c.1017+484T>C | ENSP00000400259.2:n.1017+484T>C | |
| ENST00000487848.5:c.1017+484T>C | ENSP00000417074.1:n.1017+484T>C | |
| NM_001145661.1:c.1017+484T>C , LRG_295t1:c.1017+484T>C | NP_001139133.1:n.1017+484T>C | |
| NM_001145662.1:c.1017+484T>C | NP_001139134.1:n.1017+484T>C | |
| NM_032638.4:c.1017+484T>C , LRG_295t2:c.1017+484T>C | NP_116027.2:n.1017+484T>C | |
| NM_001145661.2:c.1017+484T>C MANE Plus Clinical | NP_001139133.1:n.1017+484T>C | |
| NM_032638.5:c.1017+484T>C MANE Select | NP_116027.2:n.1017+484T>C |