Linked Data
dbSNP Id:
rs915906
gnomAD v2:
10-135343738-C-T
gnomAD v3:
10-133530234-C-T
gnomAD v4:
10-133530234-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133530234C>T , CM000672.2:g.133530234C>T | GRCh38 |
| NC_000010.10:g.135343738C>T , CM000672.1:g.135343738C>T | GRCh37 |
| NC_000010.9:g.135193728C>T | NCBI36 |
| NG_008383.1:g.7872C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252945.8:c.338-1351C>T MANE Select | ENSP00000252945.3:n.338-1351C>T | |
| ENST00000252945.7:c.338-1351C>T | ENSP00000252945.3:n.338-1351C>T | |
| ENST00000418356.1:c.77-1890C>T | ENSP00000397299.1:n.77-1890C>T | |
| ENST00000421586.5:c.77-1351C>T | ENSP00000412754.1:n.77-1351C>T | |
| ENST00000463117.6:c.338-1351C>T | ENSP00000440689.1:n.338-1351C>T | |
| ENST00000477500.5:n.299-1351C>T | ||
| ENST00000480558.1:n.563-1351C>T | ||
| ENST00000541080.5:c.77-1351C>T | ||
| NM_000773.3:c.338-1351C>T | NP_000764.1:n.338-1351C>T | |
| NM_000773.4:c.338-1351C>T MANE Select | NP_000764.1:n.338-1351C>T |