Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26402025G>C , CM000664.2:g.26402025G>C | GRCh38 |
| NC_000002.11:g.26624893G>C , CM000664.1:g.26624893G>C | GRCh37 |
| NC_000002.10:g.26478397G>C | NCBI36 |
| NG_042824.1:g.5114G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145038.5:c.36G>C MANE Select | NP_659475.2:p.Pro12= |
| ENST00000288710.7:c.36G>C MANE Select | ENSP00000288710.2:p.Pro12= |
| NM_145038.3:c.36G>C | NP_659475.2:p.Pro12= |
| NM_145038.4:c.36G>C | NP_659475.2:p.Pro12= |
| ENST00000288710.6:c.36G>C | ENSP00000288710.2:p.Pro12= |
| ENST00000421869.5:c.36G>C | ENSP00000414375.1:p.Pro12= |
| ENST00000649059.1:c.22G>C | |
| XM_005264637.3:c.-399G>C | XP_005264694.1:n.-399G>C |
| XM_017005271.1:c.-845G>C | XP_016860760.1:n.-845G>C |
| XM_024453218.1:c.-661G>C | XP_024308986.1:n.-661G>C |