Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24427925G>C , CM000676.2:g.24427925G>C | GRCh38 |
| NC_000014.8:g.24897131G>C , CM000676.1:g.24897131G>C | GRCh37 |
| NC_000014.7:g.23966971G>C | NCBI36 |
| NG_034018.1:g.3640G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039771.3:c.482C>G (CBLN3) MANE Select | NP_001034860.1:p.Thr161Ser |
| ENST00000267406.11:c.482C>G (CBLN3) MANE Select | ENSP00000267406.6:p.Thr161Ser |
| NM_001039771.2:c.482C>G (CBLN3) | NP_001034860.1:p.Thr161Ser |
| ENST00000267406.10:c.482C>G (CBLN3) | ENSP00000267406.6:p.Thr161Ser |
| ENST00000555436.1:c.329C>G (CBLN3) | ENSP00000450935.1:p.Thr110Ser |
| XM_011536590.1:c.113-2789G>C (KHNYN) | XP_011534892.1:n.113-2789G>C |
| XM_011536590.2:c.113-2789G>C (KHNYN) | XP_011534892.1:n.113-2789G>C |