Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30704587T>C , CM000678.2:g.30704587T>C | GRCh38 |
| NC_000016.9:g.30715908T>C , CM000678.1:g.30715908T>C | GRCh37 |
| NC_000016.8:g.30623409T>C | NCBI36 |
| NG_032135.1:g.10447T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.306+272T>C | ENSP00000405186.3:n.306+272T>C | |
| ENST00000706321.1:c.306+272T>C | ENSP00000516346.1:n.306+272T>C | |
| ENST00000262518.9:c.306+272T>C MANE Select | ENSP00000262518.4:n.306+272T>C | |
| ENST00000262518.8:c.306+272T>C | ENSP00000262518.4:n.306+272T>C | |
| ENST00000380361.7:c.249+272T>C | ENSP00000369719.3:n.249+272T>C | |
| NM_006662.2:c.306+272T>C | NP_006653.2:n.306+272T>C | |
| NM_006662.3:c.306+272T>C MANE Select | NP_006653.2:n.306+272T>C |