Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836369C>A , CM000672.2:g.99836369C>A | GRCh38 |
| NC_000010.10:g.101596126C>A , CM000672.1:g.101596126C>A | GRCh37 |
| NC_000010.9:g.101586116C>A | NCBI36 |
| NG_011798.1:g.58664C>A | |
| NG_011798.2:g.58772C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3614+79C>A MANE Select | ENSP00000497274.1:n.3614+79C>A | |
| ENST00000370449.8:c.3614+79C>A | ENSP00000359478.4:n.3614+79C>A | |
| NM_000392.4:c.3614+79C>A | NP_000383.1:n.3614+79C>A | |
| XM_006717630.2:c.2918+79C>A | XP_006717693.1:n.2918+79C>A | |
| XR_945604.1:n.3803+79C>A | ||
| XR_945605.1:n.3805+79C>A | ||
| NM_000392.5:c.3614+79C>A MANE Select | NP_000383.2:n.3614+79C>A | |
| XM_006717630.3:c.2918+79C>A | XP_006717693.1:n.2918+79C>A | |
| XR_945604.3:n.3857+79C>A | ||
| XR_945605.3:n.3857+79C>A |