Linked Data
ClinVar Variation Id:
529860
ClinVar RCV Id:
RCV000635362
RCV002483807
RCV003451515
RCV003451514
RCV003451512
RCV003451513
RCV003953123
dbSNP Id:
rs540322467
ExAC:
1:53679141 T / C
gnomAD v2:
1-53679141-T-C
gnomAD v3:
1-53213469-T-C
gnomAD v4:
1-53213469-T-C
COSMIC:
COSM2193295
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53213469T>C , CM000663.2:g.53213469T>C | GRCh38 |
| NC_000001.10:g.53679141T>C , CM000663.1:g.53679141T>C | GRCh37 |
| NC_000001.9:g.53451729T>C | NCBI36 |
| NG_008035.1:g.22041T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.1851T>C MANE Select | ENSP00000360541.3:p.His617= | |
| ENST00000635862.1:c.1818T>C | ENSP00000490867.1:p.His606= | |
| ENST00000635888.1:c.*1837T>C | ENSP00000490042.1:n.*1837T>C | |
| ENST00000636239.1:c.*1498T>C | ENSP00000490066.1:n.*1498T>C | |
| ENST00000636867.1:c.1782T>C | ENSP00000489631.1:p.His594= | |
| ENST00000636891.1:c.*104T>C | ENSP00000490399.1:n.*104T>C | |
| ENST00000636935.1:c.546T>C | ENSP00000489757.1:p.His182= | |
| ENST00000637252.1:c.1887T>C | ENSP00000490492.1:p.His629= | |
| ENST00000638135.1:c.*1498T>C | ENSP00000489756.1:n.*1498T>C | |
| ENST00000371486.3:c.1851T>C | ENSP00000360541.3:p.His617= | |
| NM_000098.2:c.1851T>C | NP_000089.1:p.His617= | |
| XM_005270484.1:c.1782T>C | XP_005270541.1:p.His594= | |
| NM_001330589.1:c.1782T>C | NP_001317518.1:p.His594= | |
| NM_000098.3:c.1851T>C MANE Select | NP_000089.1:p.His617= | |
| NM_001330589.2:c.1782T>C | NP_001317518.1:p.His594= |