Linked Data
ClinVar Variation Id:
445595
dbSNP Id:
rs200319381
ExAC:
10:73587868 A / C
gnomAD v2:
10-73587868-A-C
gnomAD v3:
10-71828111-A-C
gnomAD v4:
10-71828111-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71828111A>C , CM000672.2:g.71828111A>C | GRCh38 |
| NC_000010.10:g.73587868A>C , CM000672.1:g.73587868A>C | GRCh37 |
| NC_000010.9:g.73257874A>C | NCBI36 |
| NG_009301.1:g.28215T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.623T>G MANE Select | ENSP00000378394.3:p.Ile208Ser | |
| ENST00000394934.4:c.623T>G | ENSP00000378392.2:p.Ile208Ser | |
| ENST00000394936.7:c.623T>G | ENSP00000378394.3:p.Ile208Ser | |
| ENST00000610929.3:c.270+3120T>G | ENSP00000480857.1:n.270+3120T>G | |
| ENST00000633965.1:c.24T>G | ||
| NM_001042465.1:c.623T>G | NP_001035930.1:p.Ile208Ser | |
| NM_001042466.1:c.623T>G | NP_001035931.1:p.Ile208Ser | |
| NM_002778.2:c.623T>G | NP_002769.1:p.Ile208Ser | |
| NM_001042465.2:c.623T>G | NP_001035930.1:p.Ile208Ser | |
| NM_001042466.2:c.623T>G | NP_001035931.1:p.Ile208Ser | |
| NM_002778.3:c.623T>G | NP_002769.1:p.Ile208Ser | |
| NM_002778.4:c.623T>G MANE Select | NP_002769.1:p.Ile208Ser | |
| NM_001042465.3:c.623T>G | NP_001035930.1:p.Ile208Ser | |
| NM_001042466.3:c.623T>G | NP_001035931.1:p.Ile208Ser |