Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40099276T>C , CM000679.2:g.40099276T>C | GRCh38 |
| NC_000017.10:g.38255529T>C , CM000679.1:g.38255529T>C | GRCh37 |
| NC_000017.9:g.35509055T>C | NCBI36 |
| NG_033084.1:g.6450A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246672.4:c.31+788A>G MANE Select | ENSP00000246672.3:n.31+788A>G | |
| ENST00000246672.3:c.31+788A>G | ENSP00000246672.3:n.31+788A>G | |
| NM_021724.4:c.31+788A>G | NP_068370.1:n.31+788A>G | |
| NM_021724.5:c.31+788A>G MANE Select | NP_068370.1:n.31+788A>G |