Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110573651G>C , CM000672.2:g.110573651G>C | GRCh38 |
| NC_000010.10:g.112333409G>C , CM000672.1:g.112333409G>C | GRCh37 |
| NC_000010.9:g.112323399G>C | NCBI36 |
| NG_012217.1:g.10961G>C , LRG_774:g.10961G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.225-56G>C | ||
| ENST00000687823.1:n.45-1685G>C | ||
| ENST00000689932.1:n.509G>C | ||
| ENST00000691297.1:n.225-56G>C | ||
| ENST00000691527.1:n.182-56G>C | ||
| ENST00000692792.1:n.211-56G>C | ||
| ENST00000361804.5:c.92-56G>C MANE Select | ENSP00000354720.5:n.92-56G>C | |
| ENST00000361804.4:c.92-56G>C | ENSP00000354720.4:n.92-56G>C | |
| ENST00000462899.1:n.238-56G>C | ||
| NM_005445.3:c.92-56G>C , LRG_774t1:c.92-56G>C | NP_005436.1:n.92-56G>C | |
| NM_005445.4:c.92-56G>C MANE Select | NP_005436.1:n.92-56G>C |