Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89210315G>T , CM000677.2:g.89210315G>T | GRCh38 |
| NC_000015.9:g.89753546G>T , CM000677.1:g.89753546G>T | GRCh37 |
| NC_000015.8:g.87554550G>T | NCBI36 |
| NG_008116.1:g.16377C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000326.5:c.924C>A MANE Select | NP_000317.1:p.Pro308= |
| ENST00000268125.10:c.924C>A MANE Select | ENSP00000268125.5:p.Pro308= |
| NM_000326.4:c.924C>A | NP_000317.1:p.Pro308= |
| ENST00000268125.9:c.924C>A | ENSP00000268125.5:p.Pro308= |
| ENST00000563254.1:c.296C>A | |
| XM_011521870.1:c.924C>A | XP_011520172.1:p.Pro308= |
| XM_011521870.2:c.924C>A | XP_011520172.1:p.Pro308= |
| XM_011521871.1:c.849C>A | XP_011520173.1:p.Pro283= |
| XM_011521872.1:c.849C>A | XP_011520174.1:p.Pro283= |
| XM_017022460.1:c.951C>A | XP_016877949.1:p.Pro317= |