Linked Data
ClinVar Variation Id:
318872
dbSNP Id:
rs202000509
ExAC:
16:30732143 T / C
gnomAD v2:
16-30732143-T-C
gnomAD v3:
16-30720822-T-C
gnomAD v4:
16-30720822-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30720822T>C , CM000678.2:g.30720822T>C | GRCh38 |
| NC_000016.9:g.30732143T>C , CM000678.1:g.30732143T>C | GRCh37 |
| NC_000016.8:g.30639644T>C | NCBI36 |
| NG_032135.1:g.26682T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.3097T>C | ENSP00000405186.3:p.Ser1033Pro | |
| ENST00000706321.1:c.3097T>C | ENSP00000516346.1:p.Ser1033Pro | |
| ENST00000262518.9:c.3097T>C MANE Select | ENSP00000262518.4:p.Ser1033Pro | |
| ENST00000262518.8:c.3097T>C | ENSP00000262518.4:p.Ser1033Pro | |
| ENST00000380361.7:c.3040T>C | ENSP00000369719.3:p.Ser1014Pro | |
| ENST00000395059.6:c.2506T>C | ENSP00000378499.3:p.Ser836Pro | |
| ENST00000483083.3:c.2196T>C | ||
| NM_006662.2:c.3097T>C | NP_006653.2:p.Ser1033Pro | |
| NM_006662.3:c.3097T>C MANE Select | NP_006653.2:p.Ser1033Pro |