Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118152687C= , CM000673.2:g.118152687C= | GRCh38 |
| NC_000011.9:g.118023402C= , CM000673.1:g.118023402C= | GRCh37 |
| NC_000011.8:g.117528612C= | NCBI36 |
| NG_011710.1:g.5229G= , LRG_330:g.5229G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174934.4:c.-14G= MANE Select | NP_777594.1:n.-14G= |
| ENST00000324727.9:c.-14G= MANE Select | ENSP00000322460.4:n.-14G= |
| NM_001142348.1:c.-14G= | NP_001135820.1:n.-14G= |
| NM_001142348.2:c.-14G= | NP_001135820.1:n.-14G= |
| NM_174934.3:c.-14G= , LRG_330t1:c.-14G= | NP_777594.1:n.-14G= |
| ENST00000324727.8:c.-14G= | ENSP00000322460.4:n.-14G= |
| ENST00000529878.1:c.-14G= | ENSP00000436343.1:n.-14G= |