Linked Data
ClinVar Variation Id:
206722
dbSNP Id:
rs368906199
ExAC:
4:77134617 C / T
gnomAD v2:
4-77134617-C-T
gnomAD v3:
4-76213464-C-T
gnomAD v4:
4-76213464-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76213464C>T , CM000666.2:g.76213464C>T | GRCh38 |
| NC_000004.11:g.77134617C>T , CM000666.1:g.77134617C>T | GRCh37 |
| NC_000004.10:g.77353641C>T | NCBI36 |
| NG_012054.1:g.5419G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264896.8:c.80G>A MANE Select | ENSP00000264896.2:p.Arg27Gln | |
| ENST00000502908.2:n.333G>A | ||
| ENST00000509994.2:c.80G>A | ENSP00000420988.1:p.Arg27Gln | |
| ENST00000638295.1:c.-357-17600G>A | ENSP00000492288.1:n.-357-17600G>A | |
| ENST00000638372.1:n.332G>A | ||
| ENST00000638567.1:n.363G>A | ||
| ENST00000638603.1:c.80G>A | ENSP00000491728.1:p.Arg27Gln | |
| ENST00000638663.1:c.80G>A | ENSP00000491407.1:p.Arg27Gln | |
| ENST00000638680.1:n.413G>A | ||
| ENST00000639145.1:c.80G>A | ENSP00000492831.1:p.Arg27Gln | |
| ENST00000639300.1:c.80G>A | ENSP00000492840.1:p.Arg27Gln | |
| ENST00000639715.1:c.45G>A | ||
| ENST00000639738.1:c.80G>A | ENSP00000491792.1:p.Arg27Gln | |
| ENST00000640341.1:c.80G>A | ENSP00000492714.1:p.Arg27Gln | |
| ENST00000640634.1:c.57G>A | ||
| ENST00000640640.1:c.80G>A | ENSP00000492246.1:p.Arg27Gln | |
| ENST00000640916.1:n.8G>A | ||
| ENST00000640957.1:c.80G>A | ENSP00000492004.1:p.Arg27Gln | |
| ENST00000264896.6:c.80G>A | ENSP00000264896.2:p.Arg27Gln | |
| ENST00000452464.6:c.80G>A | ENSP00000399154.2:p.Arg27Gln | |
| ENST00000509994.1:c.80G>A | ENSP00000420988.1:p.Arg27Gln | |
| NM_001204255.1:c.80G>A | NP_001191184.1:p.Arg27Gln | |
| NM_005506.3:c.80G>A | NP_005497.1:p.Arg27Gln | |
| NM_005506.4:c.80G>A MANE Select | NP_005497.1:p.Arg27Gln | |
| NM_001204255.2:c.80G>A | NP_001191184.1:p.Arg27Gln |