Linked Data
ClinVar Variation Id:
1276601
ClinVar RCV Id:
RCV001687793
dbSNP Id:
rs17886522
ExAC:
10:96609775 A / C
gnomAD v2:
10-96609775-A-C
gnomAD v3:
10-94850018-A-C
gnomAD v4:
10-94850018-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94850018A>C , CM000672.2:g.94850018A>C | GRCh38 |
| NC_000010.10:g.96609775A>C , CM000672.1:g.96609775A>C | GRCh37 |
| NC_000010.9:g.96599765A>C | NCBI36 |
| NG_008384.2:g.92313A>C | |
| NG_008384.3:g.92338A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.1251A>C MANE Select | ENSP00000360372.3:p.Gly417= | |
| ENST00000645461.1:n.2162A>C | ||
| ENST00000371321.7:c.1251A>C | ENSP00000360372.3:p.Gly417= | |
| ENST00000464755.1:c.2014A>C | ENSP00000483243.1:n.2014A>C | |
| NM_000769.2:c.1251A>C | NP_000760.1:p.Gly417= | |
| NM_000769.4:c.1251A>C MANE Select | NP_000760.1:p.Gly417= |