Linked Data
ClinVar Variation Id:
2940040
ClinVar RCV Id:
RCV003797398
dbSNP Id:
rs1462260680
gnomAD v2:
3-128202857-G-C
gnomAD v4:
3-128484014-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128484014G>C , CM000665.2:g.128484014G>C | GRCh38 |
| NC_000003.11:g.128202857G>C , CM000665.1:g.128202857G>C | GRCh37 |
| NC_000003.10:g.129685547G>C | NCBI36 |
| NG_029334.1:g.14174C>G , LRG_295:g.14174C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.872-9C>G MANE Plus Clinical | ENSP00000417074.1:n.872-9C>G | |
| ENST00000696466.1:c.1154-9C>G | ENSP00000512647.1:n.1154-9C>G | |
| ENST00000341105.7:c.872-9C>G MANE Select | ENSP00000345681.2:n.872-9C>G | |
| ENST00000341105.6:c.872-9C>G | ENSP00000345681.2:n.872-9C>G | |
| ENST00000430265.6:c.872-9C>G | ENSP00000400259.2:n.872-9C>G | |
| ENST00000487848.5:c.872-9C>G | ENSP00000417074.1:n.872-9C>G | |
| NM_001145661.1:c.872-9C>G , LRG_295t1:c.872-9C>G | NP_001139133.1:n.872-9C>G | |
| NM_001145662.1:c.872-9C>G | NP_001139134.1:n.872-9C>G | |
| NM_032638.4:c.872-9C>G , LRG_295t2:c.872-9C>G | NP_116027.2:n.872-9C>G | |
| NM_001145661.2:c.872-9C>G MANE Plus Clinical | NP_001139133.1:n.872-9C>G | |
| NM_032638.5:c.872-9C>G MANE Select | NP_116027.2:n.872-9C>G |