Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16479134A>C , CM000681.2:g.16479134A>C | GRCh38 |
| NC_000019.9:g.16589945A>C , CM000681.1:g.16589945A>C | GRCh37 |
| NC_000019.8:g.16450945A>C | NCBI36 |
| NG_031959.2:g.154071T>G , LRG_422:g.154071T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269881.8:c.1152T>G MANE Select | ENSP00000269881.3:p.Leu384= | |
| ENST00000269881.7:c.1152T>G | ENSP00000269881.2:p.Leu384= | |
| ENST00000409035.1:c.*955T>G | ENSP00000386951.2:n.*955T>G | |
| NM_145046.4:c.1152T>G , LRG_422t1:c.1152T>G | NP_659483.2:p.Leu384= | |
| NM_145046.5:c.1152T>G MANE Select | NP_659483.2:p.Leu384= |