Linked Data
ClinVar Variation Id:
3029244
ClinVar RCV Id:
RCV003896353
dbSNP Id:
rs565135413
ExAC:
5:95764920 A / G
gnomAD v2:
5-95764920-A-G
gnomAD v3:
5-96429216-A-G
gnomAD v4:
5-96429216-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96429216A>G , CM000667.2:g.96429216A>G | GRCh38 |
| NC_000005.9:g.95764920A>G , CM000667.1:g.95764920A>G | GRCh37 |
| NC_000005.8:g.95790676A>G | NCBI36 |
| NG_021161.1:g.9066T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.282T>C MANE Select | ENSP00000308024.2:p.Asp94= | |
| ENST00000311106.7:c.282T>C | ENSP00000308024.2:p.Asp94= | |
| ENST00000508626.5:c.141T>C | ENSP00000421600.1:p.Asp47= | |
| ENST00000509190.1:c.282T>C | ENSP00000427294.1:p.Asp94= | |
| NM_000439.4:c.282T>C | NP_000430.3:p.Asp94= | |
| NM_001177875.1:c.141T>C | NP_001171346.1:p.Asp47= | |
| NR_130776.1:n.354+49564A>G | ||
| NM_000439.5:c.282T>C MANE Select | NP_000430.3:p.Asp94= | |
| NM_001177875.2:c.141T>C | NP_001171346.1:p.Asp47= |