Linked Data
ClinVar Variation Id:
1469784
ClinVar RCV Id:
RCV001995048
dbSNP Id:
rs2136208348
gnomAD v4:
12-109568811-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109568811A>C , CM000674.2:g.109568811A>C | GRCh38 |
| NC_000012.11:g.110006616A>C , CM000674.1:g.110006616A>C | GRCh37 |
| NC_000012.10:g.108490999A>C | NCBI36 |
| NG_007096.1:g.9687T>G | |
| NG_007702.1:g.117A>C , LRG_156:g.117A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.249T>G MANE Select | ENSP00000445920.1:p.Phe83Leu | |
| ENST00000420167.6:c.*78T>G | ENSP00000416136.2:n.*78T>G | |
| ENST00000503497.7:c.249T>G | ENSP00000474881.1:p.Phe83Leu | |
| ENST00000536760.1:n.252T>G | ||
| ENST00000537236.2:c.249T>G | ENSP00000483818.1:p.Phe83Leu | |
| ENST00000537496.5:c.249T>G | ENSP00000444793.1:p.Phe83Leu | |
| ENST00000540016.5:c.135-3635T>G | ENSP00000474582.1:n.135-3635T>G | |
| ENST00000541763.6:c.249T>G | ENSP00000474981.1:p.Phe83Leu | |
| ENST00000542390.5:n.276T>G | ||
| ENST00000544051.5:c.*43T>G | ENSP00000438079.1:n.*43T>G | |
| ENST00000545712.6:c.249T>G | ENSP00000445920.1:p.Phe83Leu | |
| NM_052845.3:c.249T>G | NP_443077.1:p.Phe83Leu | |
| NR_038118.1:n.322T>G | ||
| XM_024448961.1:c.249T>G | XP_024304729.1:p.Phe83Leu | |
| NM_052845.4:c.249T>G MANE Select | NP_443077.1:p.Phe83Leu | |
| NR_038118.2:n.273T>G |