Linked Data
ClinVar Variation Id:
343121
ClinVar RCV Id:
RCV000322755
dbSNP Id:
rs116559910
gnomAD v2:
3-128199354-C-T
gnomAD v3:
3-128480511-C-T
gnomAD v4:
3-128480511-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128480511C>T , CM000665.2:g.128480511C>T | GRCh38 |
| NC_000003.11:g.128199354C>T , CM000665.1:g.128199354C>T | GRCh37 |
| NC_000003.10:g.129682044C>T | NCBI36 |
| NG_029334.1:g.17677G>A , LRG_295:g.17677G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000487848.6:c.*508G>A MANE Plus Clinical | ENSP00000417074.1:n.*508G>A | |
| ENST00000696466.1:c.*508G>A | ENSP00000512647.1:n.*508G>A | |
| ENST00000696672.1:c.926G>A | ENSP00000512796.1:n.926G>A | |
| ENST00000341105.7:c.*508G>A MANE Select | ENSP00000345681.2:n.*508G>A | |
| ENST00000341105.6:c.*508G>A | ENSP00000345681.2:n.*508G>A | |
| ENST00000430265.6:c.*508G>A | ENSP00000400259.2:n.*508G>A | |
| ENST00000489987.1:n.1068G>A | ||
| NM_001145661.1:c.*508G>A , LRG_295t1:c.*508G>A | NP_001139133.1:n.*508G>A | |
| NM_001145662.1:c.*508G>A | NP_001139134.1:n.*508G>A | |
| NM_032638.4:c.*508G>A , LRG_295t2:c.*508G>A | NP_116027.2:n.*508G>A | |
| NM_001145661.2:c.*508G>A MANE Plus Clinical | NP_001139133.1:n.*508G>A | |
| NM_032638.5:c.*508G>A MANE Select | NP_116027.2:n.*508G>A |