Linked Data
ClinVar Variation Id:
789614
ClinVar RCV Id:
RCV000972276
dbSNP Id:
rs28371743
ExAC:
10:135345752 T / C
gnomAD v2:
10-135345752-T-C
gnomAD v3:
10-133532248-T-C
gnomAD v4:
10-133532248-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133532248T>C , CM000672.2:g.133532248T>C | GRCh38 |
| NC_000010.10:g.135345752T>C , CM000672.1:g.135345752T>C | GRCh37 |
| NC_000010.9:g.135195742T>C | NCBI36 |
| NG_008383.1:g.9886T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.612T>C MANE Select | ENSP00000252945.3:p.Asn204= | |
| ENST00000252945.7:c.612T>C | ENSP00000252945.3:p.Asn204= | |
| ENST00000368520.1:n.673T>C | ||
| ENST00000418356.1:c.201T>C | ENSP00000397299.1:p.Asn67= | |
| ENST00000421586.5:c.351T>C | ENSP00000412754.1:p.Asn117= | |
| ENST00000463117.6:c.612T>C | ENSP00000440689.1:p.Asn204= | |
| ENST00000477500.5:n.449-444T>C | ||
| ENST00000541080.5:c.227-464T>C | ||
| NM_000773.3:c.612T>C | NP_000764.1:p.Asn204= | |
| NM_000773.4:c.612T>C MANE Select | NP_000764.1:p.Asn204= |