Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836181G= , CM000672.2:g.99836181G= | GRCh38 |
| NC_000010.10:g.101595938G= , CM000672.1:g.101595938G= | GRCh37 |
| NC_000010.9:g.101585928G= | NCBI36 |
| NG_011798.1:g.58476G= | |
| NG_011798.2:g.58584G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3505G= MANE Select | ENSP00000497274.1:p.Gly1169= | |
| ENST00000370449.8:c.3505G= | ENSP00000359478.4:p.Gly1169= | |
| NM_000392.4:c.3505G= | NP_000383.1:p.Gly1169= | |
| XM_006717630.2:c.2809G= | XP_006717693.1:p.Gly937= | |
| XR_945604.1:n.3694G= | ||
| XR_945605.1:n.3696G= | ||
| NM_000392.5:c.3505G= MANE Select | NP_000383.2:p.Gly1169= | |
| XM_006717630.3:c.2809G= | XP_006717693.1:p.Gly937= | |
| XR_945604.3:n.3748G= | ||
| XR_945605.3:n.3748G= |