Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35176109T>C , CM000682.2:g.35176109T>C | GRCh38 |
| NC_000020.10:g.33763912T>C , CM000682.1:g.33763912T>C | GRCh37 |
| NC_000020.9:g.33227573T>C | NCBI36 |
| NG_032899.1:g.9139T>C | |
| NG_032899.2:g.9139T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216968.5:c.323-59T>C MANE Select | ENSP00000216968.3:n.323-59T>C | |
| ENST00000216968.4:c.323-59T>C | ENSP00000216968.3:n.323-59T>C | |
| ENST00000635377.1:c.223-59T>C | ||
| NM_006404.4:c.323-59T>C | NP_006395.2:n.323-59T>C | |
| XM_011528496.1:c.323-59T>C | XP_011526798.1:n.323-59T>C | |
| NM_001355008.1:c.-101-10238A>G | NP_001341937.1:n.-101-10238A>G | |
| NM_006404.5:c.323-59T>C MANE Select | NP_006395.2:n.323-59T>C | |
| NM_001355008.2:c.-101-10238A>G | NP_001341937.1:n.-101-10238A>G |