Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37727826G>A , CM000685.2:g.37727826G>A | GRCh38 |
| NC_000023.10:g.37587079G>A , CM000685.1:g.37587079G>A | GRCh37 |
| NC_000023.9:g.37472018G>A | NCBI36 |
| NG_007473.1:g.46967G>A | |
| NG_007473.3:g.46947G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378616.5:c.699G>A MANE Select | ENSP00000367879.3:p.Leu233= | |
| ENST00000378616.3:c.699G>A | ENSP00000367879.3:p.Leu233= | |
| ENST00000465127.1:c.171+301826G>A | ENSP00000417050.1:n.171+301826G>A | |
| NM_021083.2:c.699G>A | NP_066569.1:p.Leu233= | |
| NM_021083.4:c.699G>A MANE Select | NP_066569.1:p.Leu233= |