Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35312609G>A , CM000668.2:g.35312609G>A | GRCh38 |
| NC_000006.11:g.35280386G>A , CM000668.1:g.35280386G>A | GRCh37 |
| NC_000006.10:g.35388364G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444278.3:c.550-17G>A | ENSP00000415357.3:n.550-17G>A | |
| ENST00000698929.1:c.423+1965G>A | ENSP00000514040.1:n.423+1965G>A | |
| ENST00000698930.1:c.*308-17G>A | ENSP00000514041.1:n.*308-17G>A | |
| ENST00000698931.1:n.685-17G>A | ||
| ENST00000316637.7:c.661-17G>A MANE Select | ENSP00000319831.5:n.661-17G>A | |
| ENST00000316637.6:c.661-17G>A | ENSP00000319831.5:n.661-17G>A | |
| NM_022047.3:c.661-17G>A | NP_071330.3:n.661-17G>A | |
| NM_022047.4:c.661-17G>A MANE Select | NP_071330.3:n.661-17G>A |