Linked Data
dbSNP Id:
rs566311971
ExAC:
10:96541595 C / T
gnomAD v2:
10-96541595-C-T
gnomAD v4:
10-94781838-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781838C>T , CM000672.2:g.94781838C>T | GRCh38 |
| NC_000010.10:g.96541595C>T , CM000672.1:g.96541595C>T | GRCh37 |
| NC_000010.9:g.96531585C>T | NCBI36 |
| NG_008384.2:g.24133C>T | |
| NG_008384.3:g.24158C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.660C>T MANE Select | ENSP00000360372.3:p.Pro220= | |
| ENST00000645461.1:n.1713C>T | ||
| ENST00000371321.7:c.660C>T | ENSP00000360372.3:p.Pro220= | |
| ENST00000464755.1:c.1423C>T | ENSP00000483243.1:n.1423C>T | |
| NM_000769.2:c.660C>T | NP_000760.1:p.Pro220= | |
| NM_000769.4:c.660C>T MANE Select | NP_000760.1:p.Pro220= |