Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404545A>C , CM000679.2:g.42404545A>C | GRCh38 |
| NC_000017.10:g.40556563A>C , CM000679.1:g.40556563A>C | GRCh37 |
| NC_000017.9:g.37810089A>C | NCBI36 |
| NG_015845.1:g.23776T>G | |
| NG_015845.2:g.23776T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.*142T>G MANE Select | ENSP00000349541.4:n.*142T>G | |
| ENST00000357037.5:c.*142T>G | ENSP00000349541.4:n.*142T>G | |
| NM_012232.5:c.*142T>G | NP_036364.2:n.*142T>G | |
| NM_012232.6:c.*142T>G MANE Select | NP_036364.2:n.*142T>G |