dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.33066684C>G , CM000679.2:g.33066684C>G | GRCh38 |
| NC_000017.10:g.31393702C>G , CM000679.1:g.31393702C>G | GRCh37 |
| NC_000017.9:g.28417815C>G | NCBI36 |
| NG_029763.1:g.1095124G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225823.7:c.987+22179G>C MANE Select | ENSP00000225823.2:n.987+22179G>C | |
| ENST00000225823.6:c.987+22179G>C | ENSP00000225823.2:n.987+22179G>C | |
| ENST00000359872.6:c.834+22179G>C | ENSP00000352934.6:n.834+22179G>C | |
| ENST00000448983.1:n.392+22179G>C | ||
| NM_001094.4:c.834+22179G>C | NP_001085.2:n.834+22179G>C | |
| NM_183377.1:c.987+22179G>C | NP_899233.1:n.987+22179G>C | |
| NM_001094.5:c.834+22179G>C | NP_001085.2:n.834+22179G>C | |
| NM_183377.2:c.987+22179G>C MANE Select | NP_899233.1:n.987+22179G>C |