Linked Data
ClinVar Variation Id:
1171987
dbSNP Id:
rs759049300
ExAC:
15:48737652 T / C
gnomAD v2:
15-48737652-T-C
gnomAD v4:
15-48445455-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445455T>C , CM000677.2:g.48445455T>C | GRCh38 |
| NC_000015.9:g.48737652T>C , CM000677.1:g.48737652T>C | GRCh37 |
| NC_000015.8:g.46524944T>C | NCBI36 |
| NG_008805.2:g.205334A>G , LRG_778:g.205334A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5838A>G | ENSP00000453958.2:p.Gln1946= | |
| ENST00000674301.2:c.5838A>G | ENSP00000501333.2:p.Gln1946= | |
| ENST00000684448.1:n.4512A>G | ||
| ENST00000316623.10:c.5838A>G MANE Select | ENSP00000325527.5:p.Gln1946= | |
| ENST00000674301.1:c.837A>G | ENSP00000501333.1:p.Gln279= | |
| ENST00000316623.9:c.5838A>G | ENSP00000325527.5:p.Gln1946= | |
| ENST00000537463.6:c.*1601A>G | ENSP00000440294.2:n.*1601A>G | |
| ENST00000559133.5:c.1145A>G | ||
| NM_000138.4:c.5838A>G , LRG_778t1:c.5838A>G | NP_000129.3:p.Gln1946= | |
| NM_000138.5:c.5838A>G MANE Select | NP_000129.3:p.Gln1946= |