Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589943A>C , CM000672.2:g.110589943A>C | GRCh38 |
| NC_000010.10:g.112349701A>C , CM000672.1:g.112349701A>C | GRCh37 |
| NC_000010.9:g.112339691A>C | NCBI36 |
| NG_012217.1:g.27253A>C , LRG_774:g.27253A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1361A>C | ||
| ENST00000684988.1:n.2106A>C | ||
| ENST00000687823.1:n.1375A>C | ||
| ENST00000689932.1:n.3524A>C | ||
| ENST00000691297.1:n.1594A>C | ||
| ENST00000691527.1:n.2264A>C | ||
| ENST00000692792.1:n.1580A>C | ||
| ENST00000361804.5:c.1461A>C MANE Select | ENSP00000354720.5:p.Arg487Ser | |
| ENST00000361804.4:c.1461A>C | ENSP00000354720.4:p.Arg487Ser | |
| NM_005445.3:c.1461A>C , LRG_774t1:c.1461A>C | NP_005436.1:p.Arg487Ser | |
| NM_005445.4:c.1461A>C MANE Select | NP_005436.1:p.Arg487Ser |