Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32589820A>C , CM000668.2:g.32589820A>C | GRCh38 |
| NC_000006.11:g.32557597A>C , CM000668.1:g.32557597A>C | GRCh37 |
| NC_000006.10:g.32665575A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360004.6:c.-78T>G MANE Select | ENSP00000353099.5:n.-78T>G | |
| ENST00000360004.5:c.-78T>G | ENSP00000353099.5:n.-78T>G | |
| NM_002124.3:c.-78T>G | NP_002115.2:n.-78T>G | |
| NM_002124.4:c.-78T>G MANE Select | NP_002115.2:n.-78T>G |