Linked Data
ClinVar Variation Id:
2044624
ClinVar RCV Id:
RCV002903826
dbSNP Id:
rs745665056
ExAC:
15:48760301 T / C
gnomAD v2:
15-48760301-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48468104T>C , CM000677.2:g.48468104T>C | GRCh38 |
| NC_000015.9:g.48760301T>C , CM000677.1:g.48760301T>C | GRCh37 |
| NC_000015.8:g.46547593T>C | NCBI36 |
| NG_008805.2:g.182685A>G , LRG_778:g.182685A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4583-2A>G | ENSP00000453958.2:n.4583-2A>G | |
| ENST00000674301.2:c.4583-2A>G | ENSP00000501333.2:n.4583-2A>G | |
| ENST00000684448.1:n.3257-2A>G | ||
| ENST00000316623.10:c.4583-2A>G MANE Select | ENSP00000325527.5:n.4583-2A>G | |
| ENST00000316623.9:c.4583-2A>G | ENSP00000325527.5:n.4583-2A>G | |
| ENST00000537463.6:c.*346-2A>G | ENSP00000440294.2:n.*346-2A>G | |
| NM_000138.4:c.4583-2A>G , LRG_778t1:c.4583-2A>G | NP_000129.3:n.4583-2A>G | |
| NM_000138.5:c.4583-2A>G MANE Select | NP_000129.3:n.4583-2A>G |