Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31815431A>C , CM000668.2:g.31815431A>C | GRCh38 |
| NC_000006.11:g.31783208A>C , CM000668.1:g.31783208A>C | GRCh37 |
| NC_000006.10:g.31891187A>C | NCBI36 |
| NG_011855.1:g.4628T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_005249071.1:c.-14+19T>G | XP_005249128.1:n.-14+19T>G |
| XM_005249073.2:c.-13-3446T>G | XP_005249130.1:n.-13-3446T>G |
| XM_011514566.1:c.-13-3446T>G | XP_011512868.1:n.-13-3446T>G |