Linked Data
dbSNP Id:
rs374183622
ExAC:
15:89860696 A / C
gnomAD v2:
15-89860696-A-C
gnomAD v4:
15-89317465-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89317465A>C , CM000677.2:g.89317465A>C | GRCh38 |
| NC_000015.9:g.89860696A>C , CM000677.1:g.89860696A>C | GRCh37 |
| NC_000015.8:g.87661700A>C | NCBI36 |
| NG_008218.1:g.22331T>G | |
| NG_011736.1:g.78503A>C , LRG_500:g.78503A>C | |
| NG_008218.2:g.22331T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3554T>G | ENSP00000516154.1:p.Ile1185Ser | |
| ENST00000268124.11:c.3554T>G MANE Select | ENSP00000268124.5:p.Ile1185Ser | |
| ENST00000530292.3:c.3254T>G | ENSP00000432885.2:n.3254T>G | |
| ENST00000635986.2:c.*624T>G | ENSP00000490653.2:n.*624T>G | |
| ENST00000636774.1:c.*2158T>G | ENSP00000489799.1:n.*2158T>G | |
| ENST00000637042.1:n.78T>G | ||
| ENST00000637238.1:c.2462T>G | ENSP00000490756.1:n.2462T>G | |
| ENST00000637264.1:c.2566T>G | ||
| ENST00000666746.1:c.3131T>G | ||
| ENST00000672071.1:n.4756T>G | ||
| ENST00000672695.1:n.1333T>G | ||
| ENST00000672923.2:n.3554T>G | ||
| ENST00000268124.9:c.3554T>G | ENSP00000268124.5:p.Ile1185Ser | |
| ENST00000442287.6:c.3554T>G | ENSP00000399851.2:p.Ile1185Ser | |
| ENST00000526671.1:n.364T>G | ||
| ENST00000530292.2:c.737T>G | ENSP00000432885.1:n.737T>G | |
| ENST00000631044.2:c.*2978T>G | ENSP00000486730.1:n.*2978T>G | |
| NM_001126131.1:c.3554T>G | NP_001119603.1:p.Ile1185Ser | |
| NM_002693.2:c.3554T>G | NP_002684.1:p.Ile1185Ser | |
| NM_001126131.2:c.3554T>G | NP_001119603.1:p.Ile1185Ser | |
| NM_002693.3:c.3554T>G MANE Select | NP_002684.1:p.Ile1185Ser |