Linked Data
ClinVar Variation Id:
454696
dbSNP Id:
rs192777767
ExAC:
7:21742429 A / G
gnomAD v2:
7-21742429-A-G
gnomAD v3:
7-21702811-A-G
gnomAD v4:
7-21702811-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21702811A>G , CM000669.2:g.21702811A>G | GRCh38 |
| NC_000007.13:g.21742429A>G , CM000669.1:g.21742429A>G | GRCh37 |
| NC_000007.12:g.21708954A>G | NCBI36 |
| NG_012886.2:g.164597A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.6273+9A>G MANE Select | ENSP00000475939.1:n.6273+9A>G | |
| ENST00000328843.10:c.6294+9A>G | ENSP00000330671.7:n.6294+9A>G | |
| ENST00000409508.7:c.6273+9A>G | ENSP00000475939.1:n.6273+9A>G | |
| ENST00000465129.1:n.93+9A>G | ||
| ENST00000620169.4:c.6294+9A>G | ENSP00000481693.1:n.6294+9A>G | |
| NM_001277115.1:c.6273+9A>G | NP_001264044.1:n.6273+9A>G | |
| NM_001277115.2:c.6273+9A>G MANE Select | NP_001264044.1:n.6273+9A>G |