Linked Data
ClinVar Variation Id:
226647
dbSNP Id:
rs61754947
ExAC:
5:89947426 A / G
gnomAD v2:
5-89947426-A-G
gnomAD v3:
5-90651609-A-G
gnomAD v4:
5-90651609-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90651609A>G , CM000667.2:g.90651609A>G | GRCh38 |
| NC_000005.9:g.89947426A>G , CM000667.1:g.89947426A>G | GRCh37 |
| NC_000005.8:g.89983182A>G | NCBI36 |
| NG_007083.1:g.97810A>G | |
| NG_007083.2:g.127266A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.3295A>G MANE Select | ENSP00000384582.2:p.Thr1099Ala | |
| ENST00000504142.2:n.2061A>G | ||
| ENST00000639676.1:n.893A>G | ||
| ENST00000640403.1:c.598A>G | ENSP00000492531.1:p.Thr200Ala | |
| ENST00000405460.6:c.3295A>G | ENSP00000384582.2:p.Thr1099Ala | |
| ENST00000504142.1:c.2060A>G | ||
| NM_032119.3:c.3295A>G | NP_115495.3:p.Thr1099Ala | |
| NR_003149.1:n.3391A>G | ||
| XM_011543675.1:c.3295A>G | XP_011541977.1:p.Thr1099Ala | |
| XM_011543676.1:c.3295A>G | XP_011541978.1:p.Thr1099Ala | |
| XM_011543677.1:c.598A>G | XP_011541979.1:p.Thr200Ala | |
| XM_011543678.1:c.3295A>G | XP_011541980.1:p.Thr1099Ala | |
| XM_011543679.1:c.3295A>G | XP_011541981.1:p.Thr1099Ala | |
| NM_032119.4:c.3295A>G MANE Select | NP_115495.3:p.Thr1099Ala | |
| XM_017009963.2:c.3295A>G | XP_016865452.1:p.Thr1099Ala | |
| XM_017009964.2:c.3295A>G | XP_016865453.1:p.Thr1099Ala | |
| XM_017009965.1:c.3292A>G | XP_016865454.1:p.Thr1098Ala | |
| XM_017009966.2:c.3295A>G | XP_016865455.1:p.Thr1099Ala | |
| XM_017009967.1:c.3199A>G | XP_016865456.1:p.Thr1067Ala | |
| XM_017009968.2:c.3295A>G | XP_016865457.1:p.Thr1099Ala | |
| XM_017009969.2:c.3295A>G | XP_016865458.1:p.Thr1099Ala | |
| XM_017009970.2:c.3295A>G | XP_016865459.1:p.Thr1099Ala | |
| XM_017009971.2:c.3295A>G | XP_016865460.1:p.Thr1099Ala | |
| XM_017009974.2:c.3295A>G | XP_016865463.1:p.Thr1099Ala | |
| NR_003149.2:n.3394A>G |