Linked Data
ClinVar Variation Id:
258509
dbSNP Id:
rs193091226
ExAC:
5:127702142 T / C
gnomAD v2:
5-127702142-T-C
gnomAD v3:
5-128366449-T-C
gnomAD v4:
5-128366449-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128366449T>C , CM000667.2:g.128366449T>C | GRCh38 |
| NC_000005.9:g.127702142T>C , CM000667.1:g.127702142T>C | GRCh37 |
| NC_000005.8:g.127730041T>C | NCBI36 |
| NG_008750.1:g.176594A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262464.9:c.2249-19A>G MANE Select | ENSP00000262464.4:n.2249-19A>G | |
| ENST00000262464.8:c.2249-19A>G | ENSP00000262464.4:n.2249-19A>G | |
| ENST00000508053.5:c.2249-19A>G | ENSP00000424571.1:n.2249-19A>G | |
| ENST00000508989.5:c.2150-19A>G | ENSP00000425596.1:n.2150-19A>G | |
| ENST00000511489.1:n.470-19A>G | ||
| ENST00000619499.4:c.2246-19A>G | ENSP00000482132.1:n.2246-19A>G | |
| NM_001999.3:c.2249-19A>G | NP_001990.2:n.2249-19A>G | |
| XM_017009228.2:c.2096-19A>G | XP_016864717.1:n.2096-19A>G | |
| NM_001999.4:c.2249-19A>G MANE Select | NP_001990.2:n.2249-19A>G |