Linked Data
ClinVar Variation Id:
859252
dbSNP Id:
rs1329573334
gnomAD v2:
10-43596042-A-G
gnomAD v4:
10-43100594-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43100594A>G , CM000672.2:g.43100594A>G | GRCh38 |
| NC_000010.10:g.43596042A>G , CM000672.1:g.43596042A>G | GRCh37 |
| NC_000010.9:g.42916048A>G | NCBI36 |
| NG_007489.1:g.28526A>G , LRG_518:g.28526A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.209A>G | ENSP00000480088.2:p.Gln70Arg | |
| ENST00000683278.1:c.111A>G | ||
| ENST00000684216.1:c.111A>G | ||
| ENST00000340058.6:c.209A>G | ENSP00000344798.4:p.Gln70Arg | |
| ENST00000355710.8:c.209A>G MANE Select | ENSP00000347942.3:p.Gln70Arg | |
| ENST00000638465.1:c.111A>G | ||
| ENST00000640619.1:c.111A>G | ||
| ENST00000671844.1:c.209A>G | ENSP00000500541.1:p.Gln70Arg | |
| ENST00000672389.1:c.74-10613A>G | ENSP00000500252.1:n.74-10613A>G | |
| ENST00000340058.5:c.209A>G | ENSP00000344798.4:p.Gln70Arg | |
| ENST00000355710.7:c.209A>G | ENSP00000347942.3:p.Gln70Arg | |
| ENST00000498820.5:c.74-11505A>G | ENSP00000419080.1:n.74-11505A>G | |
| ENST00000615310.4:c.209A>G | ENSP00000480088.1:p.Gln70Arg | |
| NM_020630.4:c.209A>G , LRG_518t2:c.209A>G | NP_065681.1:p.Gln70Arg | |
| NM_020975.4:c.209A>G , LRG_518t1:c.209A>G | NP_066124.1:p.Gln70Arg | |
| XM_011540027.1:c.209A>G | XP_011538329.1:p.Gln70Arg | |
| NM_020630.5:c.209A>G | NP_065681.1:p.Gln70Arg | |
| NM_020975.5:c.209A>G | NP_066124.1:p.Gln70Arg | |
| NM_020975.6:c.209A>G MANE Select | NP_066124.1:p.Gln70Arg | |
| NM_020630.6:c.209A>G | NP_065681.1:p.Gln70Arg |