Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138947112G= , CM000667.2:g.138947112G= | GRCh38 |
| NC_000005.9:g.138282801G= , CM000667.1:g.138282801G= | GRCh37 |
| NC_000005.8:g.138310700G= | NCBI36 |
| NG_008112.1:g.256265C= | |
| NG_008112.2:g.256265C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.*5C= MANE Select | ENSP00000378294.2:n.*5C= | |
| ENST00000265195.9:c.*5C= | ENSP00000265195.5:n.*5C= | |
| ENST00000394817.6:c.*5C= | ENSP00000378294.2:n.*5C= | |
| ENST00000509534.5:c.*5C= | ENSP00000426858.1:n.*5C= | |
| ENST00000515008.1:n.726C= | ||
| NM_001037633.1:c.*5C= | NP_001032722.1:n.*5C= | |
| NM_022464.4:c.*5C= | NP_071909.1:n.*5C= | |
| XM_011543570.1:c.*5C= | XP_011541872.1:n.*5C= | |
| XM_011543570.2:c.*5C= | XP_011541872.1:n.*5C= | |
| XM_024446164.1:c.*5C= | XP_024301932.1:n.*5C= | |
| NM_022464.5:c.*5C= MANE Select | NP_071909.1:n.*5C= | |
| NM_001037633.2:c.*5C= | NP_001032722.1:n.*5C= |