Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121696979C= , CM000666.2:g.121696979C= | GRCh38 |
| NC_000004.11:g.122618134C= , CM000666.1:g.122618134C= | GRCh37 |
| NC_000004.10:g.122837584C= | NCBI36 |
| NG_032042.1:g.5014G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296511.10:c.-152G= MANE Select | ENSP00000296511.5:n.-152G= | |
| ENST00000296511.9:c.-152G= | ENSP00000296511.5:n.-152G= | |
| ENST00000509016.5:n.14G= | ||
| ENST00000513428.5:n.14G= | ||
| ENST00000513523.1:n.17G= | ||
| NM_001154.3:c.-152G= | NP_001145.1:n.-152G= | |
| XM_017008141.2:c.-152G= | XP_016863630.1:n.-152G= | |
| NM_001154.4:c.-152G= MANE Select | NP_001145.1:n.-152G= |