Linked Data
ClinVar Variation Id:
263810
dbSNP Id:
rs772928933
ExAC:
5:127595373 T / C
gnomAD v2:
5-127595373-T-C
gnomAD v4:
5-128259681-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128259681T>C , CM000667.2:g.128259681T>C | GRCh38 |
| NC_000005.9:g.127595373T>C , CM000667.1:g.127595373T>C | GRCh37 |
| NC_000005.8:g.127623272T>C | NCBI36 |
| NG_008750.1:g.283363A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.8513A>G MANE Select | ENSP00000262464.4:p.Gln2838Arg | |
| ENST00000262464.8:c.8513A>G | ENSP00000262464.4:p.Gln2838Arg | |
| ENST00000508053.5:c.8513A>G | ENSP00000424571.1:p.Gln2838Arg | |
| ENST00000619499.4:c.8510A>G | ENSP00000482132.1:p.Gln2837Arg | |
| NM_001999.3:c.8513A>G | NP_001990.2:p.Gln2838Arg | |
| XM_017009228.2:c.8360A>G | XP_016864717.1:p.Gln2787Arg | |
| NM_001999.4:c.8513A>G MANE Select | NP_001990.2:p.Gln2838Arg |