Linked Data
dbSNP Id:
rs1194178489
gnomAD v2:
10-96540255-G-T
gnomAD v3:
10-94780498-G-T
gnomAD v4:
10-94780498-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780498G>T , CM000672.2:g.94780498G>T | GRCh38 |
| NC_000010.10:g.96540255G>T , CM000672.1:g.96540255G>T | GRCh37 |
| NC_000010.9:g.96530245G>T | NCBI36 |
| NG_008384.2:g.22793G>T | |
| NG_008384.3:g.22818G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.482-1G>T MANE Select | ENSP00000360372.3:n.482-1G>T | |
| ENST00000645461.1:n.1535-1G>T | ||
| ENST00000371321.7:c.482-1G>T | ENSP00000360372.3:n.482-1G>T | |
| ENST00000464755.1:c.1245-1G>T | ENSP00000483243.1:n.1245-1G>T | |
| NM_000769.2:c.482-1G>T | NP_000760.1:n.482-1G>T | |
| NM_000769.4:c.482-1G>T MANE Select | NP_000760.1:n.482-1G>T |