Linked Data
ClinVar Variation Id:
100756
dbSNP Id:
rs55865320
ExAC:
21:46321659 C / A
gnomAD v2:
21-46321659-C-A
gnomAD v3:
21-44901744-C-A
gnomAD v4:
21-44901744-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44901744C>A , CM000683.2:g.44901744C>A | GRCh38 |
| NC_000021.8:g.46321659C>A , CM000683.1:g.46321659C>A | GRCh37 |
| NC_000021.7:g.45146087C>A | NCBI36 |
| NG_007270.2:g.32095G>T , LRG_76:g.32095G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302347.10:c.500-11G>T | ENSP00000303242.6:n.500-11G>T | |
| ENST00000652462.1:c.500-11G>T MANE Select | ENSP00000498780.1:n.500-11G>T | |
| ENST00000302347.9:c.500-11G>T | ENSP00000303242.5:n.500-11G>T | |
| ENST00000320216.10:c.473-11G>T | ENSP00000317697.6:n.473-11G>T | |
| ENST00000355153.8:c.500-11G>T | ENSP00000347279.4:n.500-11G>T | |
| ENST00000397850.6:c.500-11G>T | ENSP00000380948.2:n.500-11G>T | |
| ENST00000397852.5:c.500-11G>T | ENSP00000380950.1:n.500-11G>T | |
| ENST00000397854.7:c.329-11G>T | ENSP00000380952.3:n.329-11G>T | |
| ENST00000397857.5:c.500-11G>T | ENSP00000380955.1:n.500-11G>T | |
| ENST00000498666.5:n.643-11G>T | ||
| ENST00000521987.1:n.370G>T | ||
| ENST00000523323.5:c.*327-11G>T | ENSP00000427732.1:n.*327-11G>T | |
| ENST00000610622.4:c.329-11G>T | ENSP00000480700.1:n.329-11G>T | |
| NM_000211.4:c.500-11G>T | NP_000202.3:n.500-11G>T | |
| NM_001127491.2:c.500-11G>T | NP_001120963.2:n.500-11G>T | |
| NM_001303238.1:c.293-11G>T | NP_001290167.1:n.293-11G>T | |
| XM_006724001.1:c.293-11G>T | XP_006724064.1:n.293-11G>T | |
| XM_006724001.2:c.293-11G>T | XP_006724064.1:n.293-11G>T | |
| NM_000211.5:c.500-11G>T MANE Select | NP_000202.3:n.500-11G>T | |
| NM_001127491.3:c.500-11G>T | NP_001120963.2:n.500-11G>T | |
| NM_001303238.2:c.293-11G>T | NP_001290167.1:n.293-11G>T |