Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472256T>C , CM000677.2:g.40472256T>C | GRCh38 |
| NC_000015.9:g.40764455T>C , CM000677.1:g.40764455T>C | GRCh37 |
| NC_000015.8:g.38551747T>C | NCBI36 |
| NG_017074.1:g.6296T>C , LRG_600:g.6296T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.1043T>C MANE Select | ENSP00000307297.6:p.Leu348Pro | |
| ENST00000306243.6:c.1043T>C | ENSP00000307297.5:p.Leu348Pro | |
| ENST00000559991.1:c.968T>C | ENSP00000453882.1:p.Leu323Pro | |
| NM_130468.3:c.1043T>C , LRG_600t1:c.1043T>C | NP_569735.1:p.Leu348Pro | |
| NM_130468.4:c.1043T>C MANE Select | NP_569735.1:p.Leu348Pro |