Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028467A>C , CM000667.2:g.135028467A>C | GRCh38 |
| NC_000005.9:g.134364157A>C , CM000667.1:g.134364157A>C | GRCh37 |
| NC_000005.8:g.134392056A>C | NCBI36 |
| NG_012114.1:g.10808T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*312T>G MANE Select | ENSP00000265340.6:n.*312T>G | |
| ENST00000265340.11:c.*312T>G | ENSP00000265340.6:n.*312T>G | |
| NM_002653.4:c.*312T>G | NP_002644.4:n.*312T>G | |
| NM_002653.5:c.*312T>G MANE Select | NP_002644.4:n.*312T>G |