Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30161172G= , CM000668.2:g.30161172G= | GRCh38 |
| NC_000006.11:g.30128949G= , CM000668.1:g.30128949G= | GRCh37 |
| NC_000006.10:g.30236928G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449742.7:c.-314C= MANE Select | ENSP00000397073.2:n.-314C= | |
| XM_011514221.1:c.110C= | XP_011512523.1:p.Ser37= | |
| XM_011514222.1:c.110C= | XP_011512524.1:p.Ser37= | |
| XM_011514223.1:c.110C= | XP_011512525.1:p.Ser37= | |
| XM_011514224.1:c.110C= | XP_011512526.1:p.Ser37= | |
| XM_011514225.1:c.110C= | XP_011512527.1:p.Ser37= | |
| XM_011514222.2:c.110C= | XP_011512524.1:p.Ser37= | |
| XM_011514223.2:c.110C= | XP_011512525.1:p.Ser37= | |
| NM_006778.4:c.-314C= MANE Select | NP_006769.2:n.-314C= | |
| NM_052828.3:c.-314C= | NP_439893.2:n.-314C= |