Linked Data
ClinVar Variation Id:
1000255
dbSNP Id:
rs1031572615
gnomAD v2:
15-48780393-T-C
gnomAD v4:
15-48488196-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48488196T>C , CM000677.2:g.48488196T>C | GRCh38 |
| NC_000015.9:g.48780393T>C , CM000677.1:g.48780393T>C | GRCh37 |
| NC_000015.8:g.46567685T>C | NCBI36 |
| NG_008805.2:g.162593A>G , LRG_778:g.162593A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3254A>G | ENSP00000453958.2:p.Gln1085Arg | |
| ENST00000674301.2:c.3254A>G | ENSP00000501333.2:p.Gln1085Arg | |
| ENST00000684448.1:n.1928A>G | ||
| ENST00000316623.10:c.3254A>G MANE Select | ENSP00000325527.5:p.Gln1085Arg | |
| ENST00000316623.9:c.3254A>G | ENSP00000325527.5:p.Gln1085Arg | |
| ENST00000537463.6:c.637-13546A>G | ENSP00000440294.2:n.637-13546A>G | |
| NM_000138.4:c.3254A>G , LRG_778t1:c.3254A>G | NP_000129.3:p.Gln1085Arg | |
| NM_000138.5:c.3254A>G MANE Select | NP_000129.3:p.Gln1085Arg |