Linked Data
ClinVar Variation Id:
371075
ClinVar RCV Id:
RCV000410277
dbSNP Id:
rs1057516985
gnomAD v2:
21-45716330-T-A
gnomAD v3:
21-44296447-T-A
gnomAD v4:
21-44296447-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44296447T>A , CM000683.2:g.44296447T>A | GRCh38 |
| NC_000021.8:g.45716330T>A , CM000683.1:g.45716330T>A | GRCh37 |
| NC_000021.7:g.44540758T>A | NCBI36 |
| NG_009556.1:g.15568T>A , LRG_18:g.15568T>A | |
| NG_034033.1:g.1414T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291582.6:c.1566+2T>A MANE Select | ENSP00000291582.5:n.1566+2T>A | |
| ENST00000291582.5:c.1566+2T>A | ENSP00000291582.5:n.1566+2T>A | |
| ENST00000337909.5:n.1027+2T>A | ||
| ENST00000397994.8:n.945+2T>A | ||
| ENST00000527919.5:n.2325+2T>A | ||
| ENST00000530812.5:n.3313+2T>A | ||
| NM_000383.3:c.1566+2T>A | NP_000374.1:n.1566+2T>A | |
| XM_011529551.1:c.1563+2T>A | XP_011527853.1:n.1563+2T>A | |
| NM_000383.4:c.1566+2T>A MANE Select | NP_000374.1:n.1566+2T>A |