Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110582037G>C , CM000672.2:g.110582037G>C | GRCh38 |
| NC_000010.10:g.112341795G>C , CM000672.1:g.112341795G>C | GRCh37 |
| NC_000010.9:g.112331785G>C | NCBI36 |
| NG_012217.1:g.19347G>C , LRG_774:g.19347G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.795G>C | ||
| ENST00000687823.1:n.576G>C | ||
| ENST00000689932.1:n.2725G>C | ||
| ENST00000691297.1:n.795G>C | ||
| ENST00000691527.1:n.1465G>C | ||
| ENST00000692792.1:n.781G>C | ||
| ENST00000361804.5:c.662G>C MANE Select | ENSP00000354720.5:p.Arg221Pro | |
| ENST00000361804.4:c.662G>C | ENSP00000354720.4:p.Arg221Pro | |
| NM_005445.3:c.662G>C , LRG_774t1:c.662G>C | NP_005436.1:p.Arg221Pro | |
| NM_005445.4:c.662G>C MANE Select | NP_005436.1:p.Arg221Pro |