Linked Data
ClinVar Variation Id:
161616
ClinVar RCV Id:
RCV000149152
dbSNP Id:
rs193920828
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98978299A>G , CM000669.2:g.98978299A>G | GRCh38 |
| NC_000007.13:g.98575922A>G , CM000669.1:g.98575922A>G | GRCh37 |
| NC_000007.12:g.98413858A>G | NCBI36 |
| NG_030010.1:g.104810A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446306.8:c.8399A>G | ENSP00000403708.3:p.Gln2800Arg | |
| ENST00000704588.1:c.4211A>G | ENSP00000515962.1:p.Gln1404Arg | |
| ENST00000704589.1:c.227A>G | ENSP00000515963.1:p.Gln76Arg | |
| ENST00000360902.2:c.887A>G | ENSP00000496512.1:p.Gln296Arg | |
| ENST00000456197.2:c.8474A>G MANE Select | ENSP00000394645.2:p.Gln2825Arg | |
| ENST00000355540.7:c.8399A>G | ENSP00000347733.3:p.Gln2800Arg | |
| ENST00000359863.8:c.8453A>G | ENSP00000352925.4:p.Gln2818Arg | |
| ENST00000446306.7:c.8399A>G | ENSP00000403708.3:p.Gln2800Arg | |
| ENST00000456197.1:c.7618A>G | ||
| ENST00000628380.2:c.8399A>G | ENSP00000485781.1:p.Gln2800Arg | |
| NM_001244580.1:c.8453A>G | NP_001231509.1:p.Gln2818Arg | |
| NM_003496.3:c.8399A>G | NP_003487.1:p.Gln2800Arg | |
| NM_001375524.1:c.8474A>G MANE Select | NP_001362453.1:p.Gln2825Arg | |
| NM_001244580.2:c.8453A>G | NP_001231509.1:p.Gln2818Arg | |
| NM_003496.4:c.8399A>G | NP_003487.1:p.Gln2800Arg |