Linked Data
dbSNP Id:
rs10509676
gnomAD v2:
10-96523045-A-T
gnomAD v3:
10-94763288-A-T
gnomAD v4:
10-94763288-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94763288A>T , CM000672.2:g.94763288A>T | GRCh38 |
| NC_000010.10:g.96523045A>T , CM000672.1:g.96523045A>T | GRCh37 |
| NC_000010.9:g.96513035A>T | NCBI36 |
| NG_008384.2:g.5583A>T | |
| NG_008384.3:g.5608A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.168+415A>T MANE Select | ENSP00000360372.3:n.168+415A>T | |
| ENST00000371321.7:c.168+415A>T | ENSP00000360372.3:n.168+415A>T | |
| ENST00000464755.1:c.932-11770A>T | ENSP00000483243.1:n.932-11770A>T | |
| ENST00000480405.2:c.168+415A>T | ENSP00000483847.1:n.168+415A>T | |
| NM_000769.2:c.168+415A>T | NP_000760.1:n.168+415A>T | |
| NM_000769.4:c.168+415A>T MANE Select | NP_000760.1:n.168+415A>T |