Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354554C>G , CM000678.2:g.81354554C>G | GRCh38 |
| NC_000016.9:g.81388159C>G , CM000678.1:g.81388159C>G | GRCh37 |
| NC_000016.8:g.79945660C>G | NCBI36 |
| NG_009007.1:g.44589C>G , LRG_242:g.44589C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*140C>G | ENSP00000498114.1:n.*140C>G | |
| ENST00000648994.2:c.432C>G MANE Select | ENSP00000497351.1:p.Tyr144Ter | |
| ENST00000650388.1:c.168-2231C>G | ENSP00000498081.1:n.168-2231C>G | |
| ENST00000674788.1:n.557C>G | ||
| ENST00000568107.2:c.432C>G | ENSP00000476795.1:p.Tyr144Ter | |
| NM_022041.3:c.432C>G , LRG_242t1:c.432C>G | NP_071324.1:p.Tyr144Ter | |
| XM_017023734.1:c.-208C>G | XP_016879223.1:n.-208C>G | |
| NM_001377486.1:c.-208C>G | NP_001364415.1:n.-208C>G | |
| NM_022041.4:c.432C>G MANE Select | NP_071324.1:p.Tyr144Ter |