Linked Data
ClinVar Variation Id:
309828
ClinVar RCV Id:
RCV000381379
dbSNP Id:
rs886049681
gnomAD v3:
12-55999395-T-A
gnomAD v4:
12-55999395-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55999395T>A , CM000674.2:g.55999395T>A | GRCh38 |
| NC_000012.11:g.56393179T>A , CM000674.1:g.56393179T>A | GRCh37 |
| NC_000012.10:g.54679446T>A | NCBI36 |
| NG_008136.1:g.7137T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266971.8:c.-11+1672T>A MANE Select | ENSP00000266971.3:n.-11+1672T>A | |
| ENST00000266971.7:c.-11+1672T>A | ENSP00000266971.3:n.-11+1672T>A | |
| ENST00000356124.8:c.-11+2056T>A | ENSP00000348440.4:n.-11+2056T>A | |
| ENST00000394115.6:c.-74T>A | ENSP00000377674.2:n.-74T>A | |
| ENST00000546833.5:c.-74+1672T>A | ENSP00000449872.1:n.-74+1672T>A | |
| ENST00000547586.5:c.-206T>A | ENSP00000448637.1:n.-206T>A | |
| ENST00000548274.5:c.-174-1914T>A | ENSP00000450245.1:n.-174-1914T>A | |
| ENST00000550121.5:n.253T>A | ||
| ENST00000550340.5:n.53+2056T>A | ||
| ENST00000550478.5:n.130+1672T>A | ||
| ENST00000551698.5:n.190+1672T>A | ||
| ENST00000551841.6:c.-11+1672T>A | ENSP00000449443.1:n.-11+1672T>A | |
| ENST00000552258.5:c.-74T>A | ENSP00000450049.1:n.-74T>A | |
| ENST00000552363.5:n.81+2056T>A | ||
| ENST00000552813.5:n.131+1672T>A | ||
| NM_000456.2:c.-74T>A | NP_000447.2:n.-74T>A | |
| NM_001032386.1:c.-11+1672T>A | NP_001027558.1:n.-11+1672T>A | |
| NM_001032387.1:c.-11+2056T>A | NP_001027559.1:n.-11+2056T>A | |
| XM_005269112.1:c.-53+1672T>A | XP_005269169.1:n.-53+1672T>A | |
| XM_017019905.2:c.-116T>A | XP_016875394.1:n.-116T>A | |
| XM_017019907.2:c.-206T>A | XP_016875396.1:n.-206T>A | |
| XM_024449167.1:c.-53+1672T>A | XP_024304935.1:n.-53+1672T>A | |
| NM_001032386.2:c.-11+1672T>A MANE Select | NP_001027558.1:n.-11+1672T>A | |
| NM_000456.3:c.-74T>A | NP_000447.2:n.-74T>A | |
| NM_001032387.2:c.-11+2056T>A | NP_001027559.1:n.-11+2056T>A |