Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42649566C>A , CM000684.2:g.42649566C>A | GRCh38 |
| NC_000022.10:g.43045572C>A , CM000684.1:g.43045572C>A | GRCh37 |
| NC_000022.9:g.41375516C>A | NCBI36 |
| NG_012194.1:g.4834G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686129.1:c.-48-12720G>T | ENSP00000508623.1:n.-48-12720G>T | |
| ENST00000692152.1:c.-48-12720G>T | ENSP00000509317.1:n.-48-12720G>T | |
| ENST00000693716.1:n.250-12720G>T | ||
| ENST00000352397.9:c.-251G>T | ENSP00000338461.6:n.-251G>T |