Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121696970G= , CM000666.2:g.121696970G= | GRCh38 |
| NC_000004.11:g.122618125G= , CM000666.1:g.122618125G= | GRCh37 |
| NC_000004.10:g.122837575G= | NCBI36 |
| NG_032042.1:g.5023C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296511.10:c.-143C= MANE Select | ENSP00000296511.5:n.-143C= | |
| ENST00000296511.9:c.-143C= | ENSP00000296511.5:n.-143C= | |
| ENST00000509016.5:n.23C= | ||
| ENST00000511552.5:n.6C= | ||
| ENST00000513428.5:n.23C= | ||
| ENST00000513523.1:n.26C= | ||
| ENST00000513728.1:c.-143C= | ENSP00000427135.1:n.-143C= | |
| NM_001154.3:c.-143C= | NP_001145.1:n.-143C= | |
| XM_017008141.2:c.-143C= | XP_016863630.1:n.-143C= | |
| NM_001154.4:c.-143C= MANE Select | NP_001145.1:n.-143C= |