Linked Data
ClinVar Variation Id:
299855
ClinVar RCV Id:
RCV000269821
dbSNP Id:
rs770379811
gnomAD v2:
10-27829400-C-A
gnomAD v3:
10-27540471-C-A
gnomAD v4:
10-27540471-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27540471C>A , CM000672.2:g.27540471C>A | GRCh38 |
| NC_000010.10:g.27829400C>A , CM000672.1:g.27829400C>A | GRCh37 |
| NC_000010.9:g.27869406C>A | NCBI36 |
| NG_032035.1:g.41298C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611151.5:c.*2829C>A | ENSP00000483927.2:n.*2829C>A | |
| ENST00000682082.1:c.*171+2249C>A | ENSP00000507542.1:n.*171+2249C>A | |
| ENST00000682347.1:c.68-2282C>A | ENSP00000508355.1:n.68-2282C>A | |
| ENST00000682777.1:n.4208C>A | ||
| ENST00000683030.1:c.151-2282C>A | ||
| ENST00000683915.1:c.154-2282C>A | ||
| ENST00000684191.1:c.68-1531C>A | ENSP00000508185.1:n.68-1531C>A | |
| ENST00000684457.1:c.151-1531C>A | ||
| ENST00000356940.11:c.*2420C>A MANE Select | ENSP00000349415.7:n.*2420C>A | |
| ENST00000356940.10:c.*2420C>A | ENSP00000349415.6:n.*2420C>A | |
| ENST00000535776.5:c.*2420C>A | ENSP00000439321.1:n.*2420C>A | |
| ENST00000611151.4:c.*2420C>A | ENSP00000483927.1:n.*2420C>A | |
| ENST00000621805.4:c.3128C>A | ENSP00000478479.1:n.3128C>A | |
| NM_001256410.1:c.*2420C>A | NP_001243339.1:n.*2420C>A | |
| NM_001256411.1:c.*2380C>A | NP_001243340.1:n.*2380C>A | |
| NM_001256412.1:c.*2420C>A | NP_001243341.1:n.*2420C>A | |
| NM_001256415.1:c.*2420C>A | NP_001243344.1:n.*2420C>A | |
| NM_021252.4:c.*2420C>A | NP_067075.1:n.*2420C>A | |
| NR_046172.1:n.3175C>A | ||
| NM_001256410.2:c.*2420C>A | NP_001243339.1:n.*2420C>A | |
| NM_001256411.2:c.*2380C>A | NP_001243340.1:n.*2380C>A | |
| NM_001256412.2:c.*2420C>A | NP_001243341.1:n.*2420C>A | |
| NM_001256415.2:c.*2420C>A | NP_001243344.1:n.*2420C>A | |
| NM_021252.5:c.*2420C>A MANE Select | NP_067075.1:n.*2420C>A | |
| NR_046172.2:n.3045C>A |