Linked Data
ClinVar Variation Id:
301097
dbSNP Id:
rs7899453
ExAC:
10:79799959 C / A
gnomAD v2:
10-79799959-C-A
gnomAD v3:
10-78040201-C-A
gnomAD v4:
10-78040201-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78040201C>A , CM000672.2:g.78040201C>A | GRCh38 |
| NC_000010.10:g.79799959C>A , CM000672.1:g.79799959C>A | GRCh37 |
| NC_000010.9:g.79469965C>A | NCBI36 |
| NG_012633.1:g.11442C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360830.9:c.394-3C>A | ENSP00000354074.5:n.394-3C>A | |
| ENST00000372360.9:c.391-3C>A MANE Select | ENSP00000361435.4:n.391-3C>A | |
| ENST00000440692.6:c.390+2897C>A | ENSP00000414321.1:n.390+2897C>A | |
| ENST00000464716.6:c.*13-3C>A | ENSP00000494231.1:n.*13-3C>A | |
| ENST00000465692.2:n.402-414C>A | ||
| ENST00000476545.6:c.390+2897C>A | ENSP00000494169.1:n.390+2897C>A | |
| ENST00000480662.2:n.1646C>A | ||
| ENST00000613865.5:c.391-414C>A | ENSP00000478869.2:n.391-414C>A | |
| ENST00000645195.1:c.296-3C>A | ||
| ENST00000645440.1:c.*13-3C>A | ENSP00000496738.1:n.*13-3C>A | |
| ENST00000645698.1:n.3181C>A | ||
| ENST00000360830.8:c.391-3C>A | ENSP00000354074.4:n.391-3C>A | |
| ENST00000372360.7:c.391-414C>A | ENSP00000361435.3:n.391-414C>A | |
| ENST00000435275.5:c.391C>A | ENSP00000415549.1:p.Gln131Lys | |
| ENST00000440692.5:c.390+2897C>A | ENSP00000414321.1:n.390+2897C>A | |
| ENST00000465692.1:n.387+2897C>A | ||
| ENST00000476545.5:n.414+2897C>A | ||
| ENST00000480662.1:n.604C>A | ||
| ENST00000482069.5:n.458-414C>A | ||
| ENST00000485708.6:n.467-3C>A | ||
| NM_001026.4:c.391-414C>A | NP_001017.1:n.391-414C>A | |
| NM_001142282.1:c.394-3C>A | NP_001135754.1:n.394-3C>A | |
| NM_001142283.1:c.*13-3C>A | NP_001135755.1:n.*13-3C>A | |
| NM_001142284.1:c.*13-3C>A | NP_001135756.1:n.*13-3C>A | |
| NM_001142285.1:c.390+2897C>A | NP_001135757.1:n.390+2897C>A | |
| NM_033022.3:c.391-3C>A | NP_148982.1:n.391-3C>A | |
| XM_011540034.1:c.544-414C>A | XP_011538336.1:n.544-414C>A | |
| XM_011540035.1:c.*13-3C>A | XP_011538337.1:n.*13-3C>A | |
| XM_011540036.1:c.547-3C>A | XP_011538338.1:n.547-3C>A | |
| XM_011540037.1:c.*13-3C>A | XP_011538339.1:n.*13-3C>A | |
| XM_011540038.1:c.544-3C>A | XP_011538340.1:n.544-3C>A | |
| NM_001142285.2:c.390+2897C>A | NP_001135757.1:n.390+2897C>A | |
| NM_033022.4:c.391-3C>A MANE Select | NP_148982.1:n.391-3C>A | |
| NM_001026.5:c.391-414C>A | NP_001017.1:n.391-414C>A | |
| NM_001142282.2:c.394-3C>A | NP_001135754.1:n.394-3C>A | |
| NM_001142283.2:c.*13-3C>A | NP_001135755.1:n.*13-3C>A | |
| NM_001142284.2:c.*13-3C>A | NP_001135756.1:n.*13-3C>A |