Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63607391T>C , CM000679.2:g.63607391T>C | GRCh38 |
| NC_000017.10:g.61684751T>C , CM000679.1:g.61684751T>C | GRCh37 |
| NC_000017.9:g.59038483T>C | NCBI36 |
| NG_016979.1:g.11521T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682060.1:n.382T>C | ||
| ENST00000684587.1:c.617T>C | ENSP00000507435.1:p.Leu206Pro | |
| ENST00000690765.1:c.*446T>C | ENSP00000510085.1:n.*446T>C | |
| ENST00000258975.7:c.620T>C MANE Select | ENSP00000258975.6:p.Leu207Pro | |
| ENST00000258975.6:c.620T>C | ENSP00000258975.6:p.Leu207Pro | |
| ENST00000581120.1:n.1668T>C | ||
| NM_016360.3:c.620T>C | NP_057444.2:p.Leu207Pro | |
| NM_016360.4:c.620T>C MANE Select | NP_057444.2:p.Leu207Pro |