Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390468C= , CM000673.2:g.6390468C= | GRCh38 |
| NC_000011.9:g.6411698C= , CM000673.1:g.6411698C= | GRCh37 |
| NC_000011.8:g.6368274C= | NCBI36 |
| NG_011780.1:g.5044C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.8:c.-131C= | ENSP00000340409.4:n.-131C= | |
| ENST00000530395.1:c.-267C= | ENSP00000431479.1:n.-267C= | |
| ENST00000533196.1:n.29C= | ||
| NM_000543.4:c.-131C= | NP_000534.3:n.-131C= | |
| NM_001007593.2:c.-131C= | NP_001007594.2:n.-131C= | |
| XM_005253075.3:c.-131C= | XP_005253132.1:n.-131C= | |
| XM_011520303.1:c.-131C= | XP_011518605.1:n.-131C= | |
| XM_011520304.1:c.-131C= | XP_011518606.1:n.-131C= | |
| XR_930886.1:n.168C= | ||
| NM_001318087.1:c.-131C= | NP_001305016.1:n.-131C= | |
| NM_001318088.1:c.-1092C= | NP_001305017.1:n.-1092C= | |
| NR_027400.2:n.55C= | ||
| NR_134502.1:n.55C= |