Linked Data
ClinVar Variation Id:
2853939
ClinVar RCV Id:
RCV003625903
dbSNP Id:
rs1222176308
gnomAD v2:
1-24131032-G-A
gnomAD v4:
1-23804542-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23804542G>A , CM000663.2:g.23804542G>A | GRCh38 |
| NC_000001.10:g.24131032G>A , CM000663.1:g.24131032G>A | GRCh37 |
| NC_000001.9:g.24003619G>A | NCBI36 |
| NG_007068.1:g.1263C>T | |
| NG_013061.1:g.25918C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.751-17C>T MANE Select | ENSP00000363614.3:n.751-17C>T | |
| ENST00000235958.4:c.321-17C>T | ||
| ENST00000374487.6:c.*792-17C>T | ENSP00000363611.2:n.*792-17C>T | |
| ENST00000374490.7:c.751-17C>T | ENSP00000363614.3:n.751-17C>T | |
| ENST00000436439.6:c.538-17C>T | ENSP00000389281.2:n.538-17C>T | |
| ENST00000509389.5:n.442-17C>T | ||
| NM_000191.2:c.751-17C>T | NP_000182.2:n.751-17C>T | |
| NM_001166059.1:c.538-17C>T | NP_001159531.1:n.538-17C>T | |
| NM_000191.3:c.751-17C>T MANE Select | NP_000182.2:n.751-17C>T | |
| NM_001166059.2:c.538-17C>T | NP_001159531.1:n.538-17C>T |