Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110575392G>C , CM000672.2:g.110575392G>C | GRCh38 |
| NC_000010.10:g.112335150G>C , CM000672.1:g.112335150G>C | GRCh37 |
| NC_000010.9:g.112325140G>C | NCBI36 |
| NG_012217.1:g.12702G>C , LRG_774:g.12702G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.320G>C | ||
| ENST00000687823.1:n.101G>C | ||
| ENST00000689932.1:n.2250G>C | ||
| ENST00000691297.1:n.320G>C | ||
| ENST00000691527.1:n.277G>C | ||
| ENST00000692792.1:n.306G>C | ||
| ENST00000361804.5:c.187G>C MANE Select | ENSP00000354720.5:p.Ala63Pro | |
| ENST00000361804.4:c.187G>C | ENSP00000354720.4:p.Ala63Pro | |
| ENST00000462899.1:n.333G>C | ||
| NM_005445.3:c.187G>C , LRG_774t1:c.187G>C | NP_005436.1:p.Ala63Pro | |
| NM_005445.4:c.187G>C MANE Select | NP_005436.1:p.Ala63Pro |