Linked Data
ClinVar Variation Id:
6712
dbSNP Id:
rs121434425
ExAC:
9:35078335 C / A
gnomAD v2:
9-35078335-C-A
gnomAD v3:
9-35078338-C-A
gnomAD v4:
9-35078338-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35078338C>A , CM000671.2:g.35078338C>A | GRCh38 |
| NC_000009.11:g.35078335C>A , CM000671.1:g.35078335C>A | GRCh37 |
| NC_000009.10:g.35068335C>A | NCBI36 |
| NG_007312.1:g.6679G>T , LRG_499:g.6679G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448890.2:c.313G>T | ENSP00000409607.2:p.Glu105Ter | |
| ENST00000461149.2:n.789G>T | ||
| ENST00000696700.1:n.824G>T | ||
| ENST00000696701.1:n.523-261G>T | ||
| ENST00000696702.1:c.307+267G>T | ENSP00000512821.1:n.307+267G>T | |
| ENST00000696703.1:c.307+267G>T | ENSP00000512822.1:n.307+267G>T | |
| ENST00000696706.1:n.376G>T | ||
| ENST00000696707.1:n.530G>T | ||
| ENST00000696708.1:c.307+267G>T | ENSP00000512825.1:n.307+267G>T | |
| ENST00000696709.1:n.715G>T | ||
| ENST00000696710.1:c.313G>T | ENSP00000512826.1:p.Glu105Ter | |
| ENST00000696711.1:n.921G>T | ||
| ENST00000696713.1:c.313G>T | ENSP00000512827.1:p.Glu105Ter | |
| ENST00000696714.1:n.986+267G>T | ||
| ENST00000696715.1:c.313G>T | ENSP00000512828.1:p.Glu105Ter | |
| ENST00000378643.8:c.313G>T MANE Select | ENSP00000367910.4:p.Glu105Ter | |
| ENST00000378643.7:c.313G>T | ENSP00000367910.3:p.Glu105Ter | |
| ENST00000425676.5:c.307+267G>T | ENSP00000412793.1:n.307+267G>T | |
| ENST00000448890.1:c.313G>T | ENSP00000409607.1:p.Glu105Ter | |
| ENST00000461149.1:n.48G>T | ||
| NM_004629.1:c.313G>T , LRG_499t1:c.313G>T | NP_004620.1:p.Glu105Ter | |
| NM_004629.2:c.313G>T MANE Select | NP_004620.1:p.Glu105Ter |