Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354593G>A , CM000678.2:g.81354593G>A | GRCh38 |
| NC_000016.9:g.81388198G>A , CM000678.1:g.81388198G>A | GRCh37 |
| NC_000016.8:g.79945699G>A | NCBI36 |
| NG_009007.1:g.44628G>A , LRG_242:g.44628G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022041.4:c.471G>A MANE Select | NP_071324.1:p.Leu157= |
| ENST00000648994.2:c.471G>A MANE Select | ENSP00000497351.1:p.Leu157= |
| NM_001377486.1:c.-169G>A | NP_001364415.1:n.-169G>A |
| NM_022041.3:c.471G>A , LRG_242t1:c.471G>A | NP_071324.1:p.Leu157= |
| ENST00000568107.2:c.471G>A | ENSP00000476795.1:p.Leu157= |
| ENST00000648349.2:c.*179G>A | ENSP00000498114.1:n.*179G>A |
| ENST00000650388.1:c.168-2192G>A | ENSP00000498081.1:n.168-2192G>A |
| ENST00000674788.1:n.596G>A | |
| XM_017023734.1:c.-169G>A | XP_016879223.1:n.-169G>A |