Linked Data
ClinVar Variation Id:
1057248
ClinVar RCV Id:
RCV001366193
dbSNP Id:
rs539787090
gnomAD v4:
15-89323482-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323482C>G , CM000677.2:g.89323482C>G | GRCh38 |
| NC_000015.9:g.89866713C>G , CM000677.1:g.89866713C>G | GRCh37 |
| NC_000015.8:g.87667717C>G | NCBI36 |
| NG_008218.1:g.16314G>C | |
| NG_008218.2:g.16314G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2187G>C | ENSP00000516154.1:p.Gln729His | |
| ENST00000268124.11:c.2187G>C MANE Select | ENSP00000268124.5:p.Gln729His | |
| ENST00000530292.3:c.1788G>C | ENSP00000432885.2:p.Gln596His | |
| ENST00000635986.2:c.2187G>C | ENSP00000490653.2:p.Gln729His | |
| ENST00000636774.1:c.*754G>C | ENSP00000489799.1:n.*754G>C | |
| ENST00000637238.1:c.884G>C | ENSP00000490756.1:n.884G>C | |
| ENST00000637264.1:c.1259G>C | ||
| ENST00000666746.1:c.1764G>C | ||
| ENST00000670281.1:c.507G>C | ENSP00000499709.1:p.Gln169His | |
| ENST00000672071.1:n.2385G>C | ||
| ENST00000672923.2:n.2290G>C | ||
| ENST00000268124.9:c.2187G>C | ENSP00000268124.5:p.Gln729His | |
| ENST00000442287.6:c.2187G>C | ENSP00000399851.2:p.Gln729His | |
| ENST00000526314.2:c.539+333G>C | ||
| ENST00000526398.1:c.336G>C | ||
| ENST00000532584.5:n.389G>C | ||
| ENST00000631044.2:c.*1611G>C | ENSP00000486730.1:n.*1611G>C | |
| NM_001126131.1:c.2187G>C | NP_001119603.1:p.Gln729His | |
| NM_002693.2:c.2187G>C | NP_002684.1:p.Gln729His | |
| NM_001126131.2:c.2187G>C | NP_001119603.1:p.Gln729His | |
| NM_002693.3:c.2187G>C MANE Select | NP_002684.1:p.Gln729His |