Linked Data
ClinVar Variation Id:
213230
dbSNP Id:
rs139052603
ExAC:
5:127671227 T / C
gnomAD v2:
5-127671227-T-C
gnomAD v3:
5-128335535-T-C
gnomAD v4:
5-128335535-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335535T>C , CM000667.2:g.128335535T>C | GRCh38 |
| NC_000005.9:g.127671227T>C , CM000667.1:g.127671227T>C | GRCh37 |
| NC_000005.8:g.127699126T>C | NCBI36 |
| NG_008750.1:g.207509A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.551A>G | ||
| ENST00000703785.1:n.632A>G | ||
| ENST00000262464.9:c.3767A>G MANE Select | ENSP00000262464.4:p.Gln1256Arg | |
| ENST00000262464.8:c.3767A>G | ENSP00000262464.4:p.Gln1256Arg | |
| ENST00000507835.5:c.317A>G | ENSP00000426839.1:p.Gln106Arg | |
| ENST00000508053.5:c.3767A>G | ENSP00000424571.1:p.Gln1256Arg | |
| ENST00000508989.5:c.3668A>G | ENSP00000425596.1:p.Gln1223Arg | |
| ENST00000619499.4:c.3764A>G | ENSP00000482132.1:p.Gln1255Arg | |
| NM_001999.3:c.3767A>G | NP_001990.2:p.Gln1256Arg | |
| XM_017009228.2:c.3614A>G | XP_016864717.1:p.Gln1205Arg | |
| NM_001999.4:c.3767A>G MANE Select | NP_001990.2:p.Gln1256Arg |