Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148436862G= , CM000666.2:g.148436862G= | GRCh38 |
| NC_000004.11:g.149358014G= , CM000666.1:g.149358014G= | GRCh37 |
| NC_000004.10:g.149577464G= | NCBI36 |
| NG_013350.1:g.10659C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358102.8:c.-2C= MANE Select | ENSP00000350815.3:n.-2C= | |
| ENST00000342437.8:c.-2C= | ENSP00000343907.4:n.-2C= | |
| ENST00000344721.8:c.-2C= | ENSP00000341390.4:n.-2C= | |
| ENST00000358102.7:c.-2C= | ENSP00000350815.3:n.-2C= | |
| ENST00000512865.5:c.-2C= | ENSP00000423510.1:n.-2C= | |
| ENST00000625323.2:c.-2C= | ENSP00000486719.1:n.-2C= | |
| NM_000901.4:c.-2C= | NP_000892.2:n.-2C= | |
| NM_001166104.1:c.-2C= | NP_001159576.1:n.-2C= | |
| XM_011531975.1:c.-2C= | XP_011530277.1:n.-2C= | |
| XM_011531976.1:c.-2C= | XP_011530278.1:n.-2C= | |
| XM_011531977.1:c.-2C= | XP_011530279.1:n.-2C= | |
| XM_011531978.1:c.-2C= | XP_011530280.1:n.-2C= | |
| NM_001354819.1:c.-2C= | NP_001341748.1:n.-2C= | |
| NR_148974.1:n.362C= | ||
| XM_011531978.2:c.-2C= | XP_011530280.1:n.-2C= | |
| NM_000901.5:c.-2C= MANE Select | NP_000892.2:n.-2C= | |
| NM_001166104.2:c.-2C= | NP_001159576.1:n.-2C= | |
| NR_148974.2:n.256C= |