Linked Data
ClinVar Variation Id:
349623
ClinVar RCV Id:
RCV000284104
dbSNP Id:
rs56167251
ExAC:
4:74279184 T / C
gnomAD v2:
4-74279184-T-C
gnomAD v3:
4-73413467-T-C
gnomAD v4:
4-73413467-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73413467T>C , CM000666.2:g.73413467T>C | GRCh38 |
| NC_000004.11:g.74279184T>C , CM000666.1:g.74279184T>C | GRCh37 |
| NC_000004.10:g.74498048T>C | NCBI36 |
| NG_009291.1:g.14213T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.891T>C MANE Select | ENSP00000295897.4:p.Ser297= | |
| ENST00000295897.8:c.891T>C | ENSP00000295897.4:p.Ser297= | |
| ENST00000401494.7:c.546T>C | ENSP00000384695.3:p.Ser182= | |
| ENST00000415165.6:c.315T>C | ENSP00000401820.2:p.Ser105= | |
| ENST00000476441.6:c.*170T>C | ENSP00000423727.1:n.*170T>C | |
| ENST00000484992.1:n.211T>C | ||
| ENST00000503124.5:c.441T>C | ENSP00000421027.1:p.Ser147= | |
| ENST00000505649.5:n.577T>C | ||
| ENST00000509063.5:c.891T>C | ENSP00000422784.1:p.Ser297= | |
| ENST00000511370.1:c.424T>C | ||
| ENST00000621085.4:c.491-1639T>C | ENSP00000483421.1:n.491-1639T>C | |
| ENST00000621628.4:c.487-1635T>C | ENSP00000480485.1:n.487-1635T>C | |
| NM_000477.5:c.891T>C | NP_000468.1:p.Ser297= | |
| NM_000477.6:c.891T>C | NP_000468.1:p.Ser297= | |
| NM_000477.7:c.891T>C MANE Select | NP_000468.1:p.Ser297= |