Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48599306T>C , CM000681.2:g.48599306T>C | GRCh38 |
| NC_000019.9:g.49102563T>C , CM000681.1:g.49102563T>C | GRCh37 |
| NC_000019.8:g.53794375T>C | NCBI36 |
| NG_029063.1:g.52135T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201586.7:c.998T>C MANE Select | ENSP00000201586.2:p.Leu333Pro | |
| ENST00000201586.6:c.998T>C | ENSP00000201586.1:p.Leu333Pro | |
| ENST00000323090.4:c.953T>C | ENSP00000312880.3:p.Leu318Pro | |
| ENST00000597923.1:n.1306T>C | ||
| NM_004605.2:c.953T>C | NP_004596.2:p.Leu318Pro | |
| NM_177973.1:c.998T>C | NP_814444.1:p.Leu333Pro | |
| XM_005259182.2:c.566T>C | XP_005259239.1:p.Leu189Pro | |
| NM_177973.2:c.998T>C MANE Select | NP_814444.1:p.Leu333Pro |