Linked Data
ClinVar Variation Id:
138765
dbSNP Id:
rs146584956
ExAC:
15:89860686 G / A
gnomAD v2:
15-89860686-G-A
gnomAD v3:
15-89317455-G-A
gnomAD v4:
15-89317455-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89317455G>A , CM000677.2:g.89317455G>A | GRCh38 |
| NC_000015.9:g.89860686G>A , CM000677.1:g.89860686G>A | GRCh37 |
| NC_000015.8:g.87661690G>A | NCBI36 |
| NG_008218.1:g.22341C>T | |
| NG_011736.1:g.78493G>A , LRG_500:g.78493G>A | |
| NG_008218.2:g.22341C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3564C>T | ENSP00000516154.1:p.Cys1188= | |
| ENST00000268124.11:c.3564C>T MANE Select | ENSP00000268124.5:p.Cys1188= | |
| ENST00000530292.3:c.3264C>T | ENSP00000432885.2:n.3264C>T | |
| ENST00000635986.2:c.*634C>T | ENSP00000490653.2:n.*634C>T | |
| ENST00000636774.1:c.*2168C>T | ENSP00000489799.1:n.*2168C>T | |
| ENST00000637042.1:n.88C>T | ||
| ENST00000637238.1:c.2472C>T | ENSP00000490756.1:n.2472C>T | |
| ENST00000637264.1:c.2576C>T | ||
| ENST00000666746.1:c.3141C>T | ||
| ENST00000672071.1:n.4766C>T | ||
| ENST00000672695.1:n.1343C>T | ||
| ENST00000672923.2:n.3564C>T | ||
| ENST00000268124.9:c.3564C>T | ENSP00000268124.5:p.Cys1188= | |
| ENST00000442287.6:c.3564C>T | ENSP00000399851.2:p.Cys1188= | |
| ENST00000526671.1:n.374C>T | ||
| ENST00000530292.2:c.747C>T | ENSP00000432885.1:n.747C>T | |
| ENST00000631044.2:c.*2988C>T | ENSP00000486730.1:n.*2988C>T | |
| NM_001126131.1:c.3564C>T | NP_001119603.1:p.Cys1188= | |
| NM_002693.2:c.3564C>T | NP_002684.1:p.Cys1188= | |
| NM_001126131.2:c.3564C>T | NP_001119603.1:p.Cys1188= | |
| NM_002693.3:c.3564C>T MANE Select | NP_002684.1:p.Cys1188= |