Linked Data
dbSNP Id:
rs753946286
ExAC:
10:14478559 T / C
gnomAD v2:
10-14478559-T-C
gnomAD v4:
10-14436560-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.14436560T>C , CM000672.2:g.14436560T>C | GRCh38 |
| NC_000010.10:g.14478559T>C , CM000672.1:g.14478559T>C | GRCh37 |
| NC_000010.9:g.14518565T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475141.2:c.-305+25508A>G | ENSP00000473870.1:n.-305+25508A>G | |
| ENST00000493380.5:c.-82+25508A>G | ENSP00000474863.1:n.-82+25508A>G |