Linked Data
ClinVar Variation Id:
923597
ClinVar RCV Id:
RCV001184422
dbSNP Id:
rs756351292
ExAC:
15:48738934 A / G
gnomAD v2:
15-48738934-A-G
gnomAD v4:
15-48446737-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48446737A>G , CM000677.2:g.48446737A>G | GRCh38 |
| NC_000015.9:g.48738934A>G , CM000677.1:g.48738934A>G | GRCh37 |
| NC_000015.8:g.46526226A>G | NCBI36 |
| NG_008805.2:g.204052T>C , LRG_778:g.204052T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5757T>C | ENSP00000453958.2:p.Gly1919= | |
| ENST00000674301.2:c.5757T>C | ENSP00000501333.2:p.Gly1919= | |
| ENST00000684448.1:n.4431T>C | ||
| ENST00000316623.10:c.5757T>C MANE Select | ENSP00000325527.5:p.Gly1919= | |
| ENST00000674301.1:c.756T>C | ENSP00000501333.1:p.Gly252= | |
| ENST00000316623.9:c.5757T>C | ENSP00000325527.5:p.Gly1919= | |
| ENST00000537463.6:c.*1520T>C | ENSP00000440294.2:n.*1520T>C | |
| ENST00000559133.5:c.1064T>C | ||
| NM_000138.4:c.5757T>C , LRG_778t1:c.5757T>C | NP_000129.3:p.Gly1919= | |
| NM_000138.5:c.5757T>C MANE Select | NP_000129.3:p.Gly1919= |