Linked Data
ClinVar Variation Id:
364051
dbSNP Id:
rs140579014
ExAC:
8:97172565 T / C
gnomAD v2:
8-97172565-T-C
gnomAD v3:
8-96160337-T-C
gnomAD v4:
8-96160337-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96160337T>C , CM000670.2:g.96160337T>C | GRCh38 |
| NC_000008.10:g.97172565T>C , CM000670.1:g.97172565T>C | GRCh37 |
| NC_000008.9:g.97241741T>C | NCBI36 |
| NG_008981.1:g.5456A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.356A>G MANE Select | ENSP00000287020.4:p.Gln119Arg | |
| ENST00000287020.6:c.356A>G | ENSP00000287020.4:p.Gln119Arg | |
| ENST00000620978.1:c.356A>G | ENSP00000480170.1:p.Gln119Arg | |
| ENST00000621429.1:c.356A>G | ENSP00000483711.1:p.Gln119Arg | |
| NM_001001557.2:c.356A>G | NP_001001557.1:p.Gln119Arg | |
| NM_001001557.3:c.356A>G | NP_001001557.1:p.Gln119Arg | |
| NM_001001557.4:c.356A>G MANE Select | NP_001001557.1:p.Gln119Arg |