Linked Data
ClinVar Variation Id:
1796833
ClinVar RCV Id:
RCV002435364
dbSNP Id:
rs1302362353
gnomAD v2:
5-131944829-G-A
gnomAD v3:
5-132609137-G-A
gnomAD v4:
5-132609137-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609137G>A , CM000667.2:g.132609137G>A | GRCh38 |
| NC_000005.9:g.131944829G>A , CM000667.1:g.131944829G>A | GRCh37 |
| NC_000005.8:g.131972728G>A | NCBI36 |
| NG_021151.1:g.57214G>A | |
| NG_021151.2:g.57161G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2850G>A MANE Select | ENSP00000368100.4:p.Lys950= | |
| ENST00000638452.2:c.2553G>A | ENSP00000492349.2:p.Lys851= | |
| ENST00000638504.1:n.2458G>A | ||
| ENST00000638568.2:c.2553G>A | ENSP00000491158.2:p.Lys851= | |
| ENST00000639899.1:n.3369G>A | ||
| ENST00000640655.2:c.2553G>A | ENSP00000491596.2:p.Lys851= | |
| ENST00000651160.1:c.*994G>A | ENSP00000498829.1:n.*994G>A | |
| ENST00000651723.1:c.*2933G>A | ENSP00000498237.1:n.*2933G>A | |
| ENST00000378823.7:c.2850G>A | ENSP00000368100.4:p.Lys950= | |
| ENST00000423956.5:c.*1036G>A | ENSP00000390971.1:n.*1036G>A | |
| ENST00000533482.5:c.*2476G>A | ENSP00000431225.1:n.*2476G>A | |
| NM_005732.3:c.2850G>A | NP_005723.2:p.Lys950= | |
| NM_005732.4:c.2850G>A MANE Select | NP_005723.2:p.Lys950= |