Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110591080T>C , CM000672.2:g.110591080T>C | GRCh38 |
| NC_000010.10:g.112350838T>C , CM000672.1:g.112350838T>C | GRCh37 |
| NC_000010.9:g.112340828T>C | NCBI36 |
| NG_012217.1:g.28390T>C , LRG_774:g.28390T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005445.4:c.1760T>C MANE Select | NP_005436.1:p.Phe587Ser |
| ENST00000361804.5:c.1760T>C MANE Select | ENSP00000354720.5:p.Phe587Ser |
| NM_005445.3:c.1760T>C , LRG_774t1:c.1760T>C | NP_005436.1:p.Phe587Ser |
| ENST00000361804.4:c.1760T>C | ENSP00000354720.4:p.Phe587Ser |
| ENST00000684797.1:n.1660T>C | |
| ENST00000684988.1:n.2405T>C | |
| ENST00000687823.1:n.1674T>C | |
| ENST00000689932.1:n.3823T>C | |
| ENST00000691297.1:n.1893T>C | |
| ENST00000691527.1:n.2563T>C | |
| ENST00000692792.1:n.1879T>C |