Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32043316C>T , CM000684.2:g.32043316C>T | GRCh38 |
| NC_000022.10:g.32439303C>T , CM000684.1:g.32439303C>T | GRCh37 |
| NC_000022.9:g.30769303C>T | NCBI36 |
| NG_017045.1:g.5285C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000343.4:c.35C>T MANE Select | NP_000334.1:p.Ala12Val |
| ENST00000266088.9:c.35C>T MANE Select | ENSP00000266088.4:p.Ala12Val |
| NM_000343.3:c.35C>T | NP_000334.1:p.Ala12Val |
| ENST00000266088.8:c.35C>T | ENSP00000266088.4:p.Ala12Val |
| XM_011530331.1:c.35C>T | XP_011528633.1:p.Ala12Val |