Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48587391T>C , CM000681.2:g.48587391T>C | GRCh38 |
| NC_000019.9:g.49090648T>C , CM000681.1:g.49090648T>C | GRCh37 |
| NC_000019.8:g.53782460T>C | NCBI36 |
| NG_029063.1:g.40220T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201586.7:c.377T>C MANE Select | ENSP00000201586.2:p.Leu126Pro | |
| ENST00000201586.6:c.377T>C | ENSP00000201586.1:p.Leu126Pro | |
| ENST00000323090.4:c.332T>C | ENSP00000312880.3:p.Leu111Pro | |
| NM_004605.2:c.332T>C | NP_004596.2:p.Leu111Pro | |
| NM_177973.1:c.377T>C | NP_814444.1:p.Leu126Pro | |
| NM_177973.2:c.377T>C MANE Select | NP_814444.1:p.Leu126Pro |