Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81357921T>A , CM000678.2:g.81357921T>A | GRCh38 |
| NC_000016.9:g.81391526T>A , CM000678.1:g.81391526T>A | GRCh37 |
| NC_000016.8:g.79949027T>A | NCBI36 |
| NG_009007.1:g.47956T>A , LRG_242:g.47956T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*671T>A | ENSP00000498114.1:n.*671T>A | |
| ENST00000648994.2:c.963T>A MANE Select | ENSP00000497351.1:p.Val321= | |
| ENST00000650388.1:c.497T>A | ENSP00000498081.1:n.497T>A | |
| ENST00000568107.2:c.963T>A | ENSP00000476795.1:p.Val321= | |
| NM_022041.3:c.963T>A , LRG_242t1:c.963T>A | NP_071324.1:p.Val321= | |
| XM_017023734.1:c.324T>A | XP_016879223.1:p.Val108= | |
| NM_001377486.1:c.324T>A | NP_001364415.1:p.Val108= | |
| NM_022041.4:c.963T>A MANE Select | NP_071324.1:p.Val321= |