Linked Data
ClinVar Variation Id:
300534
dbSNP Id:
rs535525554
ExAC:
10:73594191 T / A
gnomAD v2:
10-73594191-T-A
gnomAD v3:
10-71834434-T-A
gnomAD v4:
10-71834434-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71834434T>A , CM000672.2:g.71834434T>A | GRCh38 |
| NC_000010.10:g.73594191T>A , CM000672.1:g.73594191T>A | GRCh37 |
| NC_000010.9:g.73264197T>A | NCBI36 |
| NG_009301.1:g.21892A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.112A>T MANE Select | ENSP00000378394.3:p.Thr38Ser | |
| ENST00000394934.4:c.112A>T | ENSP00000378392.2:p.Thr38Ser | |
| ENST00000394936.7:c.112A>T | ENSP00000378394.3:p.Thr38Ser | |
| ENST00000610929.3:c.112A>T | ENSP00000480857.1:p.Thr38Ser | |
| NM_001042465.1:c.112A>T | NP_001035930.1:p.Thr38Ser | |
| NM_001042466.1:c.112A>T | NP_001035931.1:p.Thr38Ser | |
| NM_002778.2:c.112A>T | NP_002769.1:p.Thr38Ser | |
| NM_001042465.2:c.112A>T | NP_001035930.1:p.Thr38Ser | |
| NM_001042466.2:c.112A>T | NP_001035931.1:p.Thr38Ser | |
| NM_002778.3:c.112A>T | NP_002769.1:p.Thr38Ser | |
| NM_002778.4:c.112A>T MANE Select | NP_002769.1:p.Thr38Ser | |
| NM_001042465.3:c.112A>T | NP_001035930.1:p.Thr38Ser | |
| NM_001042466.3:c.112A>T | NP_001035931.1:p.Thr38Ser |