Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.135621138C= , CM000669.2:g.135621138C= | GRCh38 |
| NC_000007.13:g.135305886C= , CM000669.1:g.135305886C= | GRCh37 |
| NC_000007.12:g.134956426C= | NCBI36 |
| NG_051184.1:g.68225C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285968.11:c.4330+1250C= MANE Select | ENSP00000285968.6:n.4330+1250C= | |
| ENST00000285968.10:c.4330+1250C= | ENSP00000285968.6:n.4330+1250C= | |
| ENST00000477620.5:c.75+1250C= | ||
| ENST00000607647.5:n.2608+1250C= | ||
| NM_015135.2:c.4330+1250C= | NP_055950.1:n.4330+1250C= | |
| XM_005250235.2:c.3256+1250C= | XP_005250292.1:n.3256+1250C= | |
| NM_001329434.1:c.3256+1250C= | NP_001316363.1:n.3256+1250C= | |
| NM_015135.3:c.4330+1250C= MANE Select | NP_055950.2:n.4330+1250C= | |
| NM_001329434.2:c.3256+1250C= | NP_001316363.2:n.3256+1250C= |