Linked Data
ClinVar Variation Id:
263304
dbSNP Id:
rs2554459
ExAC:
15:45408710 A / G
gnomAD v2:
15-45408710-A-G
gnomAD v3:
15-45116512-A-G
gnomAD v4:
15-45116512-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45116512A>G , CM000677.2:g.45116512A>G | GRCh38 |
| NC_000015.9:g.45408710A>G , CM000677.1:g.45408710A>G | GRCh37 |
| NC_000015.8:g.43196002A>G | NCBI36 |
| NG_009447.1:g.2650T>C | |
| NG_016992.1:g.7188A>G | |
| NG_033105.1:g.18366T>C | |
| NG_033105.2:g.18366T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323030.6:c.341-4A>G MANE Select | ENSP00000319705.5:n.341-4A>G | |
| ENST00000323030.5:c.341-4A>G | ENSP00000319705.5:n.341-4A>G | |
| ENST00000350243.10:n.621-4A>G | ||
| ENST00000491993.2:c.*408-4A>G | ENSP00000454110.1:n.*408-4A>G | |
| NM_207581.3:c.341-4A>G | NP_997464.2:n.341-4A>G | |
| XM_017022180.1:c.388A>G | XP_016877669.1:p.Thr130Ala | |
| NM_207581.4:c.341-4A>G MANE Select | NP_997464.2:n.341-4A>G |