Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151526761T>C , CM000668.2:g.151526761T>C | GRCh38 |
| NC_000006.11:g.151847896T>C , CM000668.1:g.151847896T>C | GRCh37 |
| NC_000006.10:g.151889589T>C | NCBI36 |
| NG_021198.1:g.37722T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000239374.8:c.58-9557T>C MANE Select | ENSP00000239374.6:n.58-9557T>C | |
| ENST00000239374.7:c.58-9557T>C | ENSP00000239374.6:n.58-9557T>C | |
| NM_025059.3:c.58-9557T>C | NP_079335.2:n.58-9557T>C | |
| NM_025059.4:c.58-9557T>C MANE Select | NP_079335.2:n.58-9557T>C |