Linked Data
ClinVar Variation Id:
2340
dbSNP Id:
rs267606729
gnomAD v3:
15-40472055-C-T
gnomAD v4:
15-40472055-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472055C>T , CM000677.2:g.40472055C>T | GRCh38 |
| NC_000015.9:g.40764254C>T , CM000677.1:g.40764254C>T | GRCh37 |
| NC_000015.8:g.38551546C>T | NCBI36 |
| NG_017074.1:g.6095C>T , LRG_600:g.6095C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306243.7:c.842C>T MANE Select | ENSP00000307297.6:p.Pro281Leu | |
| ENST00000306243.6:c.842C>T | ENSP00000307297.5:p.Pro281Leu | |
| ENST00000559991.1:c.767C>T | ENSP00000453882.1:p.Pro256Leu | |
| NM_130468.3:c.842C>T , LRG_600t1:c.842C>T | NP_569735.1:p.Pro281Leu | |
| NM_130468.4:c.842C>T MANE Select | NP_569735.1:p.Pro281Leu |