Linked Data
ClinVar Variation Id:
1956480
ClinVar RCV Id:
RCV002700874
dbSNP Id:
rs773686514
ExAC:
6:132211572 T / C
gnomAD v2:
6-132211572-T-C
gnomAD v4:
6-131890432-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890432T>C , CM000668.2:g.131890432T>C | GRCh38 |
| NC_000006.11:g.132211572T>C , CM000668.1:g.132211572T>C | GRCh37 |
| NC_000006.10:g.132253265T>C | NCBI36 |
| NG_008206.1:g.87417T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1130T>C | ||
| ENST00000647893.1:c.2699T>C MANE Select | ENSP00000498074.1:p.Phe900Ser | |
| ENST00000360971.6:c.2699T>C | ENSP00000354238.2:p.Phe900Ser | |
| ENST00000513998.5:c.*1536T>C | ENSP00000422424.1:n.*1536T>C | |
| NM_006208.2:c.2699T>C | NP_006199.2:p.Phe900Ser | |
| XM_011535896.1:c.1589T>C | XP_011534198.1:p.Phe530Ser | |
| NM_006208.3:c.2699T>C MANE Select | NP_006199.2:p.Phe900Ser |