Linked Data
ClinVar Variation Id:
419377
dbSNP Id:
rs1064793830
gnomAD v3:
5-126546323-C-A
gnomAD v4:
5-126546323-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126546323C>A , CM000667.2:g.126546323C>A | GRCh38 |
| NC_000005.9:g.125882015C>A , CM000667.1:g.125882015C>A | GRCh37 |
| NC_000005.8:g.125909914C>A | NCBI36 |
| NG_008600.2:g.54068G>T | |
| NG_008600.3:g.54068G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1565+1G>T MANE Select | ENSP00000387123.3:n.1565+1G>T | |
| ENST00000458249.6:c.*1474+1G>T | ENSP00000403929.1:n.*1474+1G>T | |
| ENST00000485852.7:n.312+1G>T | ||
| ENST00000497231.7:n.1992+1G>T | ||
| ENST00000635851.1:c.1563+1G>T | ||
| ENST00000636286.1:n.1330+1G>T | ||
| ENST00000636482.1:n.1099+1G>T | ||
| ENST00000636743.1:c.1445+1G>T | ENSP00000489725.1:n.1445+1G>T | |
| ENST00000636808.1:c.*1374+1G>T | ENSP00000490833.1:n.*1374+1G>T | |
| ENST00000636872.1:c.1725+1G>T | ENSP00000490919.1:n.1725+1G>T | |
| ENST00000636879.1:c.1610+1G>T | ENSP00000490811.1:n.1610+1G>T | |
| ENST00000636886.1:c.1364+1G>T | ENSP00000490371.1:n.1364+1G>T | |
| ENST00000637206.1:c.1385+1G>T | ENSP00000489895.1:n.1385+1G>T | |
| ENST00000637272.1:c.1556+1G>T | ENSP00000489686.1:n.1556+1G>T | |
| ENST00000637292.1:c.1021+1G>T | ||
| ENST00000637782.1:c.1565+1G>T | ENSP00000490024.1:n.1565+1G>T | |
| ENST00000638008.1:c.*1409+1G>T | ENSP00000490400.1:n.*1409+1G>T | |
| ENST00000638010.1:n.1511+1G>T | ||
| ENST00000409134.7:c.1565+1G>T | ENSP00000387123.3:n.1565+1G>T | |
| ENST00000447989.6:c.1454+1G>T | ENSP00000414132.2:n.1454+1G>T | |
| ENST00000485852.6:n.312+1G>T | ||
| ENST00000497231.6:n.1775+1G>T | ||
| ENST00000553117.5:c.1373+1G>T | ENSP00000448593.1:n.1373+1G>T | |
| NM_001182.4:c.1565+1G>T | NP_001173.2:n.1565+1G>T | |
| NM_001201377.1:c.1481+1G>T | NP_001188306.1:n.1481+1G>T | |
| NM_001202404.1:c.1454+1G>T | NP_001189333.1:n.1454+1G>T | |
| XM_011543417.1:c.1160+1G>T | XP_011541719.1:n.1160+1G>T | |
| XM_011543417.2:c.1160+1G>T | XP_011541719.1:n.1160+1G>T | |
| NM_001182.5:c.1565+1G>T MANE Select | NP_001173.2:n.1565+1G>T | |
| NM_001201377.2:c.1481+1G>T | NP_001188306.1:n.1481+1G>T | |
| NM_001202404.2:c.1373+1G>T | NP_001189333.2:n.1373+1G>T |