Linked Data
ClinVar Variation Id:
265384
dbSNP Id:
rs199497486
ExAC:
5:125928355 C / T
gnomAD v2:
5-125928355-C-T
gnomAD v3:
5-126592663-C-T
gnomAD v4:
5-126592663-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126592663C>T , CM000667.2:g.126592663C>T | GRCh38 |
| NC_000005.9:g.125928355C>T , CM000667.1:g.125928355C>T | GRCh37 |
| NC_000005.8:g.125956254C>T | NCBI36 |
| NG_008600.2:g.7728G>A | |
| NG_008600.3:g.7728G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.312+1G>A MANE Select | ENSP00000387123.3:n.312+1G>A | |
| ENST00000412186.2:c.312+1G>A | ENSP00000414536.2:n.312+1G>A | |
| ENST00000413020.6:c.312+1G>A | ENSP00000487936.1:n.312+1G>A | |
| ENST00000458249.6:c.*221+1G>A | ENSP00000403929.1:n.*221+1G>A | |
| ENST00000479989.6:n.495+1G>A | ||
| ENST00000503281.6:c.106+2344G>A | ||
| ENST00000509270.2:c.246+688G>A | ENSP00000449318.2:n.246+688G>A | |
| ENST00000509459.6:c.65+2344G>A | ||
| ENST00000511266.6:n.1034+1G>A | ||
| ENST00000635851.1:c.310+1G>A | ||
| ENST00000635858.1:n.152G>A | ||
| ENST00000635933.1:n.341+1G>A | ||
| ENST00000636062.1:n.207+1G>A | ||
| ENST00000636190.1:n.191+1G>A | ||
| ENST00000636225.1:c.*121+1G>A | ENSP00000490797.1:n.*121+1G>A | |
| ENST00000636743.1:c.192+2344G>A | ENSP00000489725.1:n.192+2344G>A | |
| ENST00000636808.1:c.*121+1G>A | ENSP00000490833.1:n.*121+1G>A | |
| ENST00000636872.1:c.472+1G>A | ENSP00000490919.1:n.472+1G>A | |
| ENST00000636879.1:c.312+1G>A | ENSP00000490811.1:n.312+1G>A | |
| ENST00000636886.1:c.192+2344G>A | ENSP00000490371.1:n.192+2344G>A | |
| ENST00000637206.1:c.312+1G>A | ENSP00000489895.1:n.312+1G>A | |
| ENST00000637272.1:c.312+1G>A | ENSP00000489686.1:n.312+1G>A | |
| ENST00000637782.1:c.312+1G>A | ENSP00000490024.1:n.312+1G>A | |
| ENST00000637964.1:c.258+1G>A | ENSP00000490291.1:n.258+1G>A | |
| ENST00000638008.1:c.*121+1G>A | ENSP00000490400.1:n.*121+1G>A | |
| ENST00000409134.7:c.312+1G>A | ENSP00000387123.3:n.312+1G>A | |
| ENST00000412186.1:c.*121+1G>A | ENSP00000414536.1:n.*121+1G>A | |
| ENST00000413020.5:c.312+1G>A | ENSP00000487936.1:n.312+1G>A | |
| ENST00000447989.6:c.393+1G>A | ENSP00000414132.2:n.393+1G>A | |
| ENST00000458249.5:c.472+1G>A | ENSP00000403929.1:n.472+1G>A | |
| ENST00000479989.5:n.495+1G>A | ||
| ENST00000503281.5:c.106+2344G>A | ||
| ENST00000509270.1:c.192+2344G>A | ENSP00000449318.1:n.192+2344G>A | |
| ENST00000509459.5:c.65+2344G>A | ||
| ENST00000510111.6:c.306+1G>A | ENSP00000447388.1:n.306+1G>A | |
| ENST00000511266.5:n.267+1G>A | ||
| ENST00000553117.5:c.312+1G>A | ENSP00000448593.1:n.312+1G>A | |
| NM_001182.4:c.312+1G>A | NP_001173.2:n.312+1G>A | |
| NM_001201377.1:c.228+1G>A | NP_001188306.1:n.228+1G>A | |
| NM_001202404.1:c.393+1G>A | NP_001189333.1:n.393+1G>A | |
| XM_011543417.1:c.-94+1G>A | XP_011541719.1:n.-94+1G>A | |
| XM_011543417.2:c.-94+1G>A | XP_011541719.1:n.-94+1G>A | |
| NM_001182.5:c.312+1G>A MANE Select | NP_001173.2:n.312+1G>A | |
| NM_001201377.2:c.228+1G>A | NP_001188306.1:n.228+1G>A | |
| NM_001202404.2:c.312+1G>A | NP_001189333.2:n.312+1G>A |