Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110596381A>G , CM000672.2:g.110596381A>G | GRCh38 |
| NC_000010.10:g.112356139A>G , CM000672.1:g.112356139A>G | GRCh37 |
| NC_000010.9:g.112346129A>G | NCBI36 |
| NG_012217.1:g.33691A>G , LRG_774:g.33691A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005445.4:c.1964-17A>G MANE Select | NP_005436.1:n.1964-17A>G |
| ENST00000361804.5:c.1964-17A>G MANE Select | ENSP00000354720.5:n.1964-17A>G |
| NM_005445.3:c.1964-17A>G , LRG_774t1:c.1964-17A>G | NP_005436.1:n.1964-17A>G |
| ENST00000361804.4:c.1964-17A>G | ENSP00000354720.4:n.1964-17A>G |
| ENST00000684988.1:n.2609-17A>G | |
| ENST00000692792.1:n.2083-17A>G |