Linked Data
ClinVar Variation Id:
134357
dbSNP Id:
rs200677800
ExAC:
9:35079445 T / C
gnomAD v2:
9-35079445-T-C
gnomAD v3:
9-35079448-T-C
gnomAD v4:
9-35079448-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35079448T>C , CM000671.2:g.35079448T>C | GRCh38 |
| NC_000009.11:g.35079445T>C , CM000671.1:g.35079445T>C | GRCh37 |
| NC_000009.10:g.35069445T>C | NCBI36 |
| NG_007312.1:g.5569A>G , LRG_499:g.5569A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448890.2:c.77A>G | ENSP00000409607.2:p.Gln26Arg | |
| ENST00000461149.2:n.553A>G | ||
| ENST00000696700.1:n.327A>G | ||
| ENST00000696701.1:n.292A>G | ||
| ENST00000696702.1:c.77A>G | ENSP00000512821.1:p.Gln26Arg | |
| ENST00000696703.1:c.77A>G | ENSP00000512822.1:p.Gln26Arg | |
| ENST00000696707.1:n.33A>G | ||
| ENST00000696708.1:c.77A>G | ENSP00000512825.1:p.Gln26Arg | |
| ENST00000696709.1:n.479A>G | ||
| ENST00000696710.1:c.77A>G | ENSP00000512826.1:p.Gln26Arg | |
| ENST00000696711.1:n.424A>G | ||
| ENST00000696713.1:c.77A>G | ENSP00000512827.1:p.Gln26Arg | |
| ENST00000696714.1:n.557A>G | ||
| ENST00000696715.1:c.77A>G | ENSP00000512828.1:p.Gln26Arg | |
| ENST00000378643.8:c.77A>G MANE Select | ENSP00000367910.4:p.Gln26Arg | |
| ENST00000378643.7:c.77A>G | ENSP00000367910.3:p.Gln26Arg | |
| ENST00000425676.5:c.77A>G | ENSP00000412793.1:p.Gln26Arg | |
| ENST00000448890.1:c.77A>G | ENSP00000409607.1:p.Gln26Arg | |
| ENST00000462124.1:n.222A>G | ||
| NM_004629.1:c.77A>G , LRG_499t1:c.77A>G | NP_004620.1:p.Gln26Arg | |
| NM_004629.2:c.77A>G MANE Select | NP_004620.1:p.Gln26Arg |