Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845632G>A , CM000672.2:g.99845632G>A | GRCh38 |
| NC_000010.10:g.101605389G>A , CM000672.1:g.101605389G>A | GRCh37 |
| NC_000010.9:g.101595379G>A | NCBI36 |
| NG_011798.1:g.67927G>A | |
| NG_011798.2:g.68035G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3996G>A MANE Select | ENSP00000497274.1:p.Val1332= | |
| ENST00000649459.1:n.344G>A | ||
| ENST00000370449.8:c.3996G>A | ENSP00000359478.4:p.Val1332= | |
| NM_000392.4:c.3996G>A | NP_000383.1:p.Val1332= | |
| XM_006717630.2:c.3300G>A | XP_006717693.1:p.Val1100= | |
| XR_945604.1:n.4177-51G>A | ||
| XR_945605.1:n.4060G>A | ||
| NM_000392.5:c.3996G>A MANE Select | NP_000383.2:p.Val1332= | |
| XM_006717630.3:c.3300G>A | XP_006717693.1:p.Val1100= | |
| XR_945604.3:n.4231-51G>A | ||
| XR_945605.3:n.4112G>A |