Linked Data
ClinVar Variation Id:
1932285
dbSNP Id:
rs1010372555
gnomAD v2:
15-89861943-G-A
gnomAD v4:
15-89318712-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318712G>A , CM000677.2:g.89318712G>A | GRCh38 |
| NC_000015.9:g.89861943G>A , CM000677.1:g.89861943G>A | GRCh37 |
| NC_000015.8:g.87662947G>A | NCBI36 |
| NG_008218.1:g.21084C>T | |
| NG_011736.1:g.79750G>A , LRG_500:g.79750G>A | |
| NG_008218.2:g.21084C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3311C>T | ENSP00000516154.1:p.Ser1104Phe | |
| ENST00000268124.11:c.3311C>T MANE Select | ENSP00000268124.5:p.Ser1104Phe | |
| ENST00000530292.3:c.2912C>T | ENSP00000432885.2:p.Ser971Phe | |
| ENST00000635986.2:c.*381C>T | ENSP00000490653.2:n.*381C>T | |
| ENST00000636774.1:c.*1878C>T | ENSP00000489799.1:n.*1878C>T | |
| ENST00000637238.1:c.2120C>T | ENSP00000490756.1:n.2120C>T | |
| ENST00000637264.1:c.2383C>T | ||
| ENST00000666746.1:c.2888C>T | ||
| ENST00000672071.1:n.3509C>T | ||
| ENST00000672695.1:n.488C>T | ||
| ENST00000672923.2:n.3311C>T | ||
| ENST00000268124.9:c.3311C>T | ENSP00000268124.5:p.Ser1104Phe | |
| ENST00000442287.6:c.3311C>T | ENSP00000399851.2:p.Ser1104Phe | |
| ENST00000530292.2:c.395C>T | ENSP00000432885.1:p.Ser132Phe | |
| ENST00000631044.2:c.*2735C>T | ENSP00000486730.1:n.*2735C>T | |
| NM_001126131.1:c.3311C>T | NP_001119603.1:p.Ser1104Phe | |
| NM_002693.2:c.3311C>T | NP_002684.1:p.Ser1104Phe | |
| NM_001126131.2:c.3311C>T | NP_001119603.1:p.Ser1104Phe | |
| NM_002693.3:c.3311C>T MANE Select | NP_002684.1:p.Ser1104Phe |