Linked Data
ClinVar Variation Id:
1109485
dbSNP Id:
rs769856570
ExAC:
2:73799498 T / C
gnomAD v2:
2-73799498-T-C
gnomAD v4:
2-73572371-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572371T>C , CM000664.2:g.73572371T>C | GRCh38 |
| NC_000002.11:g.73799498T>C , CM000664.1:g.73799498T>C | GRCh37 |
| NC_000002.10:g.73653006T>C | NCBI36 |
| NG_011690.1:g.191619T>C , LRG_741:g.191619T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10113T>C | ENSP00000507671.1:p.His3371= | |
| ENST00000682801.1:c.10113T>C | ENSP00000507862.1:p.His3371= | |
| ENST00000682859.1:c.10113T>C | ENSP00000508222.1:p.His3371= | |
| ENST00000683791.1:c.3199T>C | ||
| ENST00000684460.1:c.7394T>C | ||
| ENST00000684548.1:c.10113T>C | ENSP00000507421.1:p.His3371= | |
| ENST00000684590.1:c.4560T>C | ENSP00000507376.1:p.His1520= | |
| ENST00000684656.1:c.7439T>C | ||
| ENST00000613296.6:c.10494T>C MANE Select | ENSP00000482968.1:p.His3498= | |
| ENST00000651057.1:c.648T>C | ENSP00000498504.1:p.His216= | |
| ENST00000651434.1:c.1850T>C | ||
| ENST00000652487.1:c.1591T>C | ||
| ENST00000423048.5:c.3985T>C | ENSP00000399833.1:n.3985T>C | |
| ENST00000484298.5:c.10368T>C | ENSP00000478155.1:p.His3456= | |
| ENST00000613296.4:c.10494T>C | ENSP00000482968.1:p.His3498= | |
| ENST00000614410.4:c.10494T>C | ENSP00000479094.1:p.His3498= | |
| ENST00000620466.4:n.4297T>C | ||
| NM_015120.4:c.10497T>C , LRG_741t1:c.10497T>C | NP_055935.4:p.His3499= | |
| NM_001378454.1:c.10494T>C MANE Select | NP_001365383.1:p.His3498= |