Linked Data
ClinVar Variation Id:
486350
dbSNP Id:
rs758159521
gnomAD v2:
10-43601840-C-G
gnomAD v3:
10-43106392-C-G
gnomAD v4:
10-43106392-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43106392C>G , CM000672.2:g.43106392C>G | GRCh38 |
| NC_000010.10:g.43601840C>G , CM000672.1:g.43601840C>G | GRCh37 |
| NC_000010.9:g.42921846C>G | NCBI36 |
| NG_007489.1:g.34324C>G , LRG_518:g.34324C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615310.5:c.867+1199C>G | ENSP00000480088.2:n.867+1199C>G | |
| ENST00000683007.1:n.458C>G | ||
| ENST00000340058.6:c.884C>G | ENSP00000344798.4:p.Thr295Arg | |
| ENST00000355710.8:c.884C>G MANE Select | ENSP00000347942.3:p.Thr295Arg | |
| ENST00000671844.1:c.625+3763C>G | ENSP00000500541.1:n.625+3763C>G | |
| ENST00000672389.1:c.74-4815C>G | ENSP00000500252.1:n.74-4815C>G | |
| ENST00000340058.5:c.884C>G | ENSP00000344798.4:p.Thr295Arg | |
| ENST00000355710.7:c.884C>G | ENSP00000347942.3:p.Thr295Arg | |
| ENST00000479913.1:n.479C>G | ||
| ENST00000498820.5:c.74-5707C>G | ENSP00000419080.1:n.74-5707C>G | |
| ENST00000615310.4:c.884C>G | ENSP00000480088.1:p.Thr295Arg | |
| NM_020630.4:c.884C>G , LRG_518t2:c.884C>G | NP_065681.1:p.Thr295Arg | |
| NM_020975.4:c.884C>G , LRG_518t1:c.884C>G | NP_066124.1:p.Thr295Arg | |
| XM_011540027.1:c.884C>G | XP_011538329.1:p.Thr295Arg | |
| NM_001355216.1:c.122C>G | NP_001342145.1:p.Thr41Arg | |
| NM_020630.5:c.884C>G | NP_065681.1:p.Thr295Arg | |
| NM_020975.5:c.884C>G | NP_066124.1:p.Thr295Arg | |
| NM_020975.6:c.884C>G MANE Select | NP_066124.1:p.Thr295Arg | |
| NM_020630.6:c.884C>G | NP_065681.1:p.Thr295Arg |