Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.126446467C= , CM000668.2:g.126446467C= | GRCh38 |
| NC_000006.11:g.126767613C= , CM000668.1:g.126767613C= | GRCh37 |
| NC_000006.10:g.126809306C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651326.1:n.2417+26000G= | ||
| ENST00000652383.1:n.630+85196G= | ||
| NR_104462.1:n.800+12842C= | ||
| NR_104462.2:n.474+12842C= |