Linked Data
ClinVar Variation Id:
2712576
ClinVar RCV Id:
RCV003503788
dbSNP Id:
rs745657228
ExAC:
10:112361939 A / T
gnomAD v2:
10-112361939-A-T
gnomAD v4:
10-110602181-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110602181A>T , CM000672.2:g.110602181A>T | GRCh38 |
| NC_000010.10:g.112361939A>T , CM000672.1:g.112361939A>T | GRCh37 |
| NC_000010.9:g.112351929A>T | NCBI36 |
| NG_012217.1:g.39491A>T , LRG_774:g.39491A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5338+3A>T | ||
| ENST00000685743.1:n.2813+3A>T | ||
| ENST00000686057.1:n.1456+3A>T | ||
| ENST00000689321.1:n.2068+3A>T | ||
| ENST00000689986.1:n.894+3A>T | ||
| ENST00000361804.5:c.3105+3A>T MANE Select | ENSP00000354720.5:n.3105+3A>T | |
| ENST00000361804.4:c.3105+3A>T | ENSP00000354720.4:n.3105+3A>T | |
| NM_005445.3:c.3105+3A>T , LRG_774t1:c.3105+3A>T | NP_005436.1:n.3105+3A>T | |
| NM_005445.4:c.3105+3A>T MANE Select | NP_005436.1:n.3105+3A>T |