Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30051429T>C , CM000668.2:g.30051429T>C | GRCh38 |
| NC_000006.11:g.30019206T>C , CM000668.1:g.30019206T>C | GRCh37 |
| NC_000006.10:g.30127185T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000701313.1:n.431+6686A>G | ||
| ENST00000701715.1:n.171+6686A>G | ||
| ENST00000702304.1:n.410+6686A>G | ||
| ENST00000685581.1:n.496+6686A>G | ||
| ENST00000688495.1:n.360+6686A>G | ||
| ENST00000376797.7:n.259+6686A>G | ||
| ENST00000420251.5:n.437+6686A>G | ||
| ENST00000421692.5:n.1152+5662A>G | ||
| ENST00000422224.5:n.456+6686A>G | ||
| ENST00000425604.5:n.264+6686A>G | ||
| ENST00000437417.5:n.976+6686A>G | ||
| ENST00000448093.5:n.479+6686A>G | ||
| NR_026751.1:n.437+6686A>G | ||
| NR_026751.2:n.442+6686A>G | ||
| NR_145416.1:n.442+6686A>G |