Linked Data
dbSNP Id:
rs774284203
ExAC:
10:112335122 T / C
gnomAD v2:
10-112335122-T-C
gnomAD v4:
10-110575364-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110575364T>C , CM000672.2:g.110575364T>C | GRCh38 |
| NC_000010.10:g.112335122T>C , CM000672.1:g.112335122T>C | GRCh37 |
| NC_000010.9:g.112325112T>C | NCBI36 |
| NG_012217.1:g.12674T>C , LRG_774:g.12674T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.292T>C | ||
| ENST00000687823.1:n.73T>C | ||
| ENST00000689932.1:n.2222T>C | ||
| ENST00000691297.1:n.292T>C | ||
| ENST00000691527.1:n.249T>C | ||
| ENST00000692792.1:n.278T>C | ||
| ENST00000361804.5:c.159T>C MANE Select | ENSP00000354720.5:p.Phe53= | |
| ENST00000361804.4:c.159T>C | ENSP00000354720.4:p.Phe53= | |
| ENST00000462899.1:n.305T>C | ||
| NM_005445.3:c.159T>C , LRG_774t1:c.159T>C | NP_005436.1:p.Phe53= | |
| NM_005445.4:c.159T>C MANE Select | NP_005436.1:p.Phe53= |