Linked Data
dbSNP Id:
rs769406222
ExAC:
10:96540258 T / C
gnomAD v2:
10-96540258-T-C
gnomAD v4:
10-94780501-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780501T>C , CM000672.2:g.94780501T>C | GRCh38 |
| NC_000010.10:g.96540258T>C , CM000672.1:g.96540258T>C | GRCh37 |
| NC_000010.9:g.96530248T>C | NCBI36 |
| NG_008384.2:g.22796T>C | |
| NG_008384.3:g.22821T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.484T>C MANE Select | ENSP00000360372.3:p.Ser162Pro | |
| ENST00000645461.1:n.1537T>C | ||
| ENST00000371321.7:c.484T>C | ENSP00000360372.3:p.Ser162Pro | |
| ENST00000464755.1:c.1247T>C | ENSP00000483243.1:n.1247T>C | |
| NM_000769.2:c.484T>C | NP_000760.1:p.Ser162Pro | |
| NM_000769.4:c.484T>C MANE Select | NP_000760.1:p.Ser162Pro |