Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24491200C>T , CM000668.2:g.24491200C>T | GRCh38 |
| NC_000006.11:g.24491428C>T , CM000668.1:g.24491428C>T | GRCh37 |
| NC_000006.10:g.24599407C>T | NCBI36 |
| NG_008161.1:g.1232C>T | |
| NG_029888.2:g.3423G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474784.5:n.240-1703G>A | ||
| ENST00000475417.1:n.234-1703G>A | ||
| XM_011514509.1:c.45-1703G>A | XP_011512811.1:n.45-1703G>A | |
| XM_017010753.2:c.45-1703G>A | XP_016866242.1:n.45-1703G>A | |
| XR_002956277.1:n.267-1703G>A |