Linked Data
ClinVar Variation Id:
371664
dbSNP Id:
rs1057517449
gnomAD v4:
1-46196730-C-T
MutSpliceDB:
CA16040755
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46196730C>T , CM000663.2:g.46196730C>T | GRCh38 |
| NC_000001.10:g.46662402C>T , CM000663.1:g.46662402C>T | GRCh37 |
| NC_000001.9:g.46434989C>T | NCBI36 |
| NG_009205.2:g.28576G>A | |
| NG_009205.3:g.28576G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.354+1G>A | ENSP00000379698.4:n.354+1G>A | |
| ENST00000477114.2:n.526+1G>A | ||
| ENST00000497439.6:n.526+1G>A | ||
| ENST00000684817.1:n.522+1G>A | ||
| ENST00000684898.1:n.526+1G>A | ||
| ENST00000685230.1:c.354+1G>A | ENSP00000510305.1:n.354+1G>A | |
| ENST00000685275.1:n.511+1G>A | ||
| ENST00000685444.1:c.354+1G>A | ENSP00000510762.1:n.354+1G>A | |
| ENST00000685704.1:n.526+1G>A | ||
| ENST00000685775.1:n.647G>A | ||
| ENST00000685833.1:n.499+1G>A | ||
| ENST00000686252.1:n.776G>A | ||
| ENST00000686379.1:c.354+1G>A | ENSP00000508913.1:n.354+1G>A | |
| ENST00000686724.1:n.526+1G>A | ||
| ENST00000686737.1:c.354+1G>A | ENSP00000508736.1:n.354+1G>A | |
| ENST00000687112.1:n.526+1G>A | ||
| ENST00000687149.1:c.354+1G>A | ENSP00000509745.1:n.354+1G>A | |
| ENST00000687197.1:c.354+1G>A | ENSP00000510749.1:n.354+1G>A | |
| ENST00000687235.1:n.526+1G>A | ||
| ENST00000687613.1:n.522+1G>A | ||
| ENST00000687683.1:c.354+1G>A | ENSP00000508522.1:n.354+1G>A | |
| ENST00000688032.1:n.526+1G>A | ||
| ENST00000688596.1:n.526+1G>A | ||
| ENST00000688608.1:c.354+1G>A | ENSP00000508890.1:n.354+1G>A | |
| ENST00000688919.1:n.508G>A | ||
| ENST00000689031.1:n.526+1G>A | ||
| ENST00000689717.1:n.526+1G>A | ||
| ENST00000689756.1:c.235+240G>A | ENSP00000509023.1:n.235+240G>A | |
| ENST00000690377.1:n.526+1G>A | ||
| ENST00000690678.1:c.354+1G>A | ENSP00000508703.1:n.354+1G>A | |
| ENST00000691209.1:c.354+1G>A | ENSP00000510112.1:n.354+1G>A | |
| ENST00000691243.1:c.354+1G>A | ENSP00000510654.1:n.354+1G>A | |
| ENST00000692169.1:n.526+1G>A | ||
| ENST00000692202.1:n.522+1G>A | ||
| ENST00000692322.1:c.*206+1G>A | ENSP00000509017.1:n.*206+1G>A | |
| ENST00000692369.1:c.354+1G>A | ENSP00000508453.1:n.354+1G>A | |
| ENST00000692599.1:n.526+1G>A | ||
| ENST00000692635.1:c.354+1G>A | ENSP00000508425.1:n.354+1G>A | |
| ENST00000693168.1:n.526+1G>A | ||
| ENST00000693218.1:c.354+1G>A | ENSP00000510577.1:n.354+1G>A | |
| ENST00000693223.1:n.998+1G>A | ||
| ENST00000693365.1:n.601G>A | ||
| ENST00000371984.8:c.354+1G>A MANE Select | ENSP00000361052.3:n.354+1G>A | |
| ENST00000371984.7:c.354+1G>A | ENSP00000361052.3:n.354+1G>A | |
| ENST00000371992.1:c.354+1G>A | ENSP00000361060.1:n.354+1G>A | |
| ENST00000396420.7:c.354+1G>A | ENSP00000379698.3:n.354+1G>A | |
| ENST00000489985.1:n.587+49G>A | ||
| ENST00000497439.5:n.478+1G>A | ||
| NM_001243766.1:c.354+1G>A | NP_001230695.1:n.354+1G>A | |
| NM_001290129.1:c.288+1G>A | NP_001277058.1:n.288+1G>A | |
| NM_001290130.1:c.-76+1G>A | NP_001277059.1:n.-76+1G>A | |
| NM_017739.3:c.354+1G>A | NP_060209.3:n.354+1G>A | |
| XM_005271010.1:c.354+1G>A | XP_005271067.1:n.354+1G>A | |
| XM_006710755.1:c.354+1G>A | XP_006710818.1:n.354+1G>A | |
| XM_006710756.1:c.354+1G>A | XP_006710819.1:n.354+1G>A | |
| XM_011541759.1:c.288+1G>A | XP_011540061.1:n.288+1G>A | |
| XM_011541760.1:c.288+1G>A | XP_011540062.1:n.288+1G>A | |
| XR_946706.1:n.513+1G>A | ||
| XM_011541760.3:c.288+1G>A | XP_011540062.1:n.288+1G>A | |
| XM_017001690.1:c.354+1G>A | XP_016857179.1:n.354+1G>A | |
| NM_001243766.2:c.354+1G>A | NP_001230695.2:n.354+1G>A | |
| NM_001290129.2:c.288+1G>A | NP_001277058.2:n.288+1G>A | |
| NM_001290130.2:c.-76+1G>A | NP_001277059.2:n.-76+1G>A | |
| NM_017739.4:c.354+1G>A MANE Select | NP_060209.4:n.354+1G>A |