Linked Data
ClinVar Variation Id:
97597
dbSNP Id:
rs104895311
gnomAD v3:
12-109586058-G-A
gnomAD v4:
12-109586058-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109586058G>A , CM000674.2:g.109586058G>A | GRCh38 |
| NC_000012.11:g.110023863G>A , CM000674.1:g.110023863G>A | GRCh37 |
| NC_000012.10:g.108508246G>A | NCBI36 |
| NG_007702.1:g.17364G>A , LRG_156:g.17364G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.-91-4788G>A | ENSP00000439134.1:n.-91-4788G>A | |
| ENST00000546277.6:c.564G>A | ENSP00000438153.2:p.Trp188Ter | |
| ENST00000636529.2:n.115G>A | ||
| ENST00000697195.1:c.*328G>A | ENSP00000513181.1:n.*328G>A | |
| ENST00000697196.1:c.564G>A | ENSP00000513182.1:p.Trp188Ter | |
| ENST00000228510.8:c.564G>A MANE Select | ENSP00000228510.3:p.Trp188Ter | |
| ENST00000636529.1:c.101G>A | ||
| ENST00000636996.1:c.412G>A | ||
| ENST00000228510.7:c.564G>A | ENSP00000228510.3:p.Trp188Ter | |
| ENST00000392727.7:c.408G>A | ENSP00000376487.3:p.Trp136Ter | |
| ENST00000447878.6:c.*11G>A | ENSP00000415555.2:n.*11G>A | |
| ENST00000535044.1:n.508G>A | ||
| ENST00000537237.5:c.*328G>A | ENSP00000445382.1:n.*328G>A | |
| ENST00000539575.4:c.564G>A | ENSP00000443551.2:p.Trp188Ter | |
| ENST00000539696.5:c.-91-4788G>A | ENSP00000439134.1:n.-91-4788G>A | |
| ENST00000545516.1:n.109G>A | ||
| ENST00000545774.5:c.*11G>A | ENSP00000443978.1:n.*11G>A | |
| ENST00000546277.5:c.564G>A | ENSP00000438153.1:p.Trp188Ter | |
| ENST00000625889.2:c.408G>A | ENSP00000486846.1:p.Trp136Ter | |
| ENST00000629016.2:c.*11G>A | ENSP00000486804.1:n.*11G>A | |
| NM_000431.3:c.564G>A | NP_000422.1:p.Trp188Ter | |
| NM_001114185.2:c.564G>A | NP_001107657.1:p.Trp188Ter | |
| NM_001301182.1:c.408G>A | NP_001288111.1:p.Trp136Ter | |
| XM_011538372.1:c.564G>A | XP_011536674.1:p.Trp188Ter | |
| XM_017019313.2:c.408G>A | XP_016874802.1:p.Trp136Ter | |
| XM_017019314.1:c.564G>A | XP_016874803.1:p.Trp188Ter | |
| XM_024448982.1:c.564G>A | XP_024304750.1:p.Trp188Ter | |
| NM_000431.4:c.564G>A MANE Select | NP_000422.1:p.Trp188Ter | |
| NM_001114185.3:c.564G>A | NP_001107657.1:p.Trp188Ter | |
| NM_001301182.2:c.408G>A | NP_001288111.1:p.Trp136Ter |