Linked Data
ClinVar Variation Id:
657397
ClinVar RCV Id:
RCV000813989
dbSNP Id:
rs1595841598
gnomAD v4:
11-47333315-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333315T>C , CM000673.2:g.47333315T>C | GRCh38 |
| NC_000011.9:g.47354866T>C , CM000673.1:g.47354866T>C | GRCh37 |
| NC_000011.8:g.47311442T>C | NCBI36 |
| NG_007667.1:g.24388A>G , LRG_386:g.24388A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3209A>G MANE Select | ENSP00000442795.1:p.Gln1070Arg | |
| ENST00000256993.8:c.3209A>G | ENSP00000256993.5:p.Gln1070Arg | |
| ENST00000399249.6:c.3209A>G | ENSP00000382193.2:p.Gln1070Arg | |
| ENST00000545968.5:c.3209A>G | ENSP00000442795.1:p.Gln1070Arg | |
| NM_000256.3:c.3209A>G , LRG_386t1:c.3209A>G MANE Select | NP_000247.2:p.Gln1070Arg | |
| XM_011520117.1:c.3191A>G | XP_011518419.1:p.Gln1064Arg | |
| XM_011520118.1:c.3128A>G | XP_011518420.1:p.Gln1043Arg |