Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.141196270A>C , CM000666.2:g.141196270A>C | GRCh38 |
| NC_000004.11:g.142117424A>C , CM000666.1:g.142117424A>C | GRCh37 |
| NC_000004.10:g.142336874A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000420921.6:c.-6+16524T>G | ENSP00000394581.2:n.-6+16524T>G |
| XM_011532148.1:c.-6+16524T>G | XP_011530450.1:n.-6+16524T>G |
| XM_011532148.3:c.-6+16524T>G | XP_011530450.1:n.-6+16524T>G |