Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.106285307C>A , CM000669.2:g.106285307C>A | GRCh38 |
| NC_000007.13:g.105925753C>A , CM000669.1:g.105925753C>A | GRCh37 |
| NC_000007.12:g.105712989C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000417537.1:c.-48+234G>T | ENSP00000390896.1:n.-48+234G>T |
| ENST00000424768.1:c.-98+234G>T | ENSP00000390591.1:n.-98+234G>T |
| ENST00000424768.2:c.-98+234G>T | ENSP00000390591.2:n.-98+234G>T |
| ENST00000681255.1:c.-48+234G>T | ENSP00000506129.1:n.-48+234G>T |
| ENST00000681491.1:c.-98+11G>T | ENSP00000506540.1:n.-98+11G>T |
| XM_005250100.1:c.-98+234G>T | XP_005250157.1:n.-98+234G>T |