Linked Data
ClinVar Variation Id:
1520865
ClinVar RCV Id:
RCV002030976
dbSNP Id:
rs2131797303
gnomAD v4:
10-67811576-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67811576T>C , CM000672.2:g.67811576T>C | GRCh38 |
| NC_000010.10:g.69571334T>C , CM000672.1:g.69571334T>C | GRCh37 |
| NC_000010.9:g.69241340T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225171.7:c.245A>G MANE Select | ENSP00000225171.2:p.Gln82Arg | |
| ENST00000225171.6:c.245A>G | ENSP00000225171.2:p.Gln82Arg | |
| ENST00000339758.7:c.245A>G | ENSP00000343575.6:p.Gln82Arg | |
| ENST00000480180.1:c.*264A>G | ENSP00000474804.1:n.*264A>G | |
| ENST00000480963.5:c.*165A>G | ENSP00000473979.1:n.*165A>G | |
| ENST00000483798.6:c.335A>G | ENSP00000474215.1:p.Gln112Arg | |
| NM_021800.2:c.245A>G | NP_068572.1:p.Gln82Arg | |
| NM_201262.1:c.245A>G | NP_957714.1:p.Gln82Arg | |
| XM_011539967.1:c.275A>G | XP_011538269.1:p.Gln92Arg | |
| XM_017016431.1:c.-2A>G | XP_016871920.1:n.-2A>G | |
| XM_017016432.2:c.-2A>G | XP_016871921.1:n.-2A>G | |
| NM_021800.3:c.245A>G MANE Select | NP_068572.1:p.Gln82Arg | |
| NM_201262.2:c.245A>G | NP_957714.1:p.Gln82Arg |