Linked Data
ClinVar Variation Id:
906034
ClinVar RCV Id:
RCV001154931
dbSNP Id:
rs61332165
ExAC:
4:74286034 C / T
gnomAD v2:
4-74286034-C-T
gnomAD v3:
4-73420317-C-T
gnomAD v4:
4-73420317-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73420317C>T , CM000666.2:g.73420317C>T | GRCh38 |
| NC_000004.11:g.74286034C>T , CM000666.1:g.74286034C>T | GRCh37 |
| NC_000004.10:g.74504898C>T | NCBI36 |
| NG_009291.1:g.21063C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.*19C>T MANE Select | ENSP00000295897.4:n.*19C>T | |
| ENST00000295897.8:c.*19C>T | ENSP00000295897.4:n.*19C>T | |
| ENST00000401494.7:c.*19C>T | ENSP00000384695.3:n.*19C>T | |
| ENST00000415165.6:c.*19C>T | ENSP00000401820.2:n.*19C>T | |
| ENST00000476441.6:c.*1128C>T | ENSP00000423727.1:n.*1128C>T | |
| ENST00000495173.1:n.157C>T | ||
| ENST00000503124.5:c.*19C>T | ENSP00000421027.1:n.*19C>T | |
| ENST00000505649.5:n.1396C>T | ||
| ENST00000508932.5:n.239C>T | ||
| ENST00000509063.5:c.1785+678C>T | ENSP00000422784.1:n.1785+678C>T | |
| ENST00000511370.1:c.1382C>T | ||
| ENST00000621085.4:c.*19C>T | ENSP00000483421.1:n.*19C>T | |
| ENST00000621628.4:c.*19C>T | ENSP00000480485.1:n.*19C>T | |
| NM_000477.5:c.*19C>T | NP_000468.1:n.*19C>T | |
| NM_000477.6:c.*19C>T | NP_000468.1:n.*19C>T | |
| NM_000477.7:c.*19C>T MANE Select | NP_000468.1:n.*19C>T |