Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98186753C= , CM000669.2:g.98186753C= | GRCh38 |
| NC_000007.13:g.97816065C= , CM000669.1:g.97816065C= | GRCh37 |
| NC_000007.12:g.97654001C= | NCBI36 |
| NG_013375.1:g.84869C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297293.6:c.877-124C= MANE Select | ENSP00000297293.5:n.877-124C= | |
| ENST00000297293.5:c.877-124C= | ENSP00000297293.5:n.877-124C= | |
| NM_014916.3:c.877-124C= | NP_055731.2:n.877-124C= | |
| XM_011515981.1:c.871-124C= | XP_011514283.1:n.871-124C= | |
| XM_011515981.3:c.871-124C= | XP_011514283.1:n.871-124C= | |
| NM_014916.4:c.877-124C= MANE Select | NP_055731.2:n.877-124C= |