Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72224984C= , CM000673.2:g.72224984C= | GRCh38 |
| NC_000011.9:g.71936028C= , CM000673.1:g.71936028C= | GRCh37 |
| NC_000011.8:g.71613676C= | NCBI36 |
| NG_023253.1:g.5147C= | |
| NG_023253.2:g.5147C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.-1C= MANE Select | ENSP00000298229.2:n.-1C= | |
| ENST00000298229.6:c.-1C= | ENSP00000298229.2:n.-1C= | |
| ENST00000540973.1:c.-1C= | ENSP00000440904.1:n.-1C= | |
| ENST00000543234.1:c.-1C= | ENSP00000440512.1:n.-1C= | |
| NM_001567.3:c.-1C= | NP_001558.3:n.-1C= | |
| XM_005273978.3:c.-1C= | XP_005274035.1:n.-1C= | |
| XM_005273979.3:c.-1C= | XP_005274036.1:n.-1C= | |
| XM_011544999.1:c.-1C= | XP_011543301.1:n.-1C= | |
| XM_011545000.1:c.-1C= | XP_011543302.1:n.-1C= | |
| XM_005273979.4:c.-1C= | XP_005274036.1:n.-1C= | |
| XM_011544999.2:c.-1C= | XP_011543301.1:n.-1C= | |
| XM_024448501.1:c.-1C= | XP_024304269.1:n.-1C= | |
| XM_024448502.1:c.-1C= | XP_024304270.1:n.-1C= | |
| XM_024448503.1:c.-122C= | XP_024304271.1:n.-122C= | |
| XM_024448504.1:c.-1C= | XP_024304272.1:n.-1C= | |
| XM_024448505.1:c.-1C= | XP_024304273.1:n.-1C= | |
| NM_001567.4:c.-1C= MANE Select | NP_001558.3:n.-1C= |