Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74529341C>G , CM000685.2:g.74529341C>G | GRCh38 |
| NC_000023.10:g.73749176C>G , CM000685.1:g.73749176C>G | GRCh37 |
| NC_000023.9:g.73665901C>G | NCBI36 |
| NG_011641.1:g.113092C>G | |
| NG_011641.2:g.113092C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.1299C>G MANE Select | ENSP00000465734.1:p.Pro433= | |
| ENST00000636771.1:c.1208C>G | ||
| ENST00000587091.5:c.1299C>G | ENSP00000465734.1:p.Pro433= | |
| ENST00000590447.1:c.611-1992C>G | ||
| NM_006517.4:c.1299C>G | NP_006508.2:p.Pro433= | |
| XM_005262294.1:c.1171-1992C>G | XP_005262351.1:n.1171-1992C>G | |
| NM_006517.5:c.1299C>G MANE Select | NP_006508.2:p.Pro433= |