Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270036C>A , CM000668.2:g.31270036C>A | GRCh38 |
| NC_000006.11:g.31237813C>A , CM000668.1:g.31237813C>A | GRCh37 |
| NC_000006.10:g.31345792C>A | NCBI36 |
| NG_029422.2:g.7096G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.945G>T MANE Select | ENSP00000365402.5:p.Leu315= | |
| ENST00000376228.9:c.945G>T | ENSP00000365402.5:p.Leu315= | |
| ENST00000376237.8:c.*532G>T | ENSP00000365412.4:n.*532G>T | |
| ENST00000383329.7:c.945G>T | ENSP00000372819.3:p.Leu315= | |
| ENST00000470363.5:n.263G>T | ||
| ENST00000487245.5:n.1304G>T | ||
| NM_002117.5:c.945G>T | NP_002108.4:p.Leu315= | |
| NM_002117.6:c.945G>T MANE Select | NP_002108.4:p.Leu315= |