Linked Data
ClinVar Variation Id:
46318
dbSNP Id:
rs188772875
ExAC:
5:89948255 A / G
gnomAD v2:
5-89948255-A-G
gnomAD v3:
5-90652438-A-G
gnomAD v4:
5-90652438-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90652438A>G , CM000667.2:g.90652438A>G | GRCh38 |
| NC_000005.9:g.89948255A>G , CM000667.1:g.89948255A>G | GRCh37 |
| NC_000005.8:g.89984011A>G | NCBI36 |
| NG_007083.1:g.98639A>G | |
| NG_007083.2:g.128095A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.3509A>G MANE Select | ENSP00000384582.2:p.Tyr1170Cys | |
| ENST00000504142.2:n.2275A>G | ||
| ENST00000639676.1:n.1107A>G | ||
| ENST00000640403.1:c.812A>G | ENSP00000492531.1:p.Tyr271Cys | |
| ENST00000405460.6:c.3509A>G | ENSP00000384582.2:p.Tyr1170Cys | |
| ENST00000504142.1:c.2274A>G | ||
| NM_032119.3:c.3509A>G | NP_115495.3:p.Tyr1170Cys | |
| NR_003149.1:n.3605A>G | ||
| XM_011543675.1:c.3509A>G | XP_011541977.1:p.Tyr1170Cys | |
| XM_011543676.1:c.3509A>G | XP_011541978.1:p.Tyr1170Cys | |
| XM_011543677.1:c.812A>G | XP_011541979.1:p.Tyr271Cys | |
| XM_011543678.1:c.3509A>G | XP_011541980.1:p.Tyr1170Cys | |
| XM_011543679.1:c.3509A>G | XP_011541981.1:p.Tyr1170Cys | |
| NM_032119.4:c.3509A>G MANE Select | NP_115495.3:p.Tyr1170Cys | |
| XM_017009963.2:c.3509A>G | XP_016865452.1:p.Tyr1170Cys | |
| XM_017009964.2:c.3509A>G | XP_016865453.1:p.Tyr1170Cys | |
| XM_017009965.1:c.3506A>G | XP_016865454.1:p.Tyr1169Cys | |
| XM_017009966.2:c.3509A>G | XP_016865455.1:p.Tyr1170Cys | |
| XM_017009967.1:c.3413A>G | XP_016865456.1:p.Tyr1138Cys | |
| XM_017009968.2:c.3509A>G | XP_016865457.1:p.Tyr1170Cys | |
| XM_017009969.2:c.3509A>G | XP_016865458.1:p.Tyr1170Cys | |
| XM_017009970.2:c.3509A>G | XP_016865459.1:p.Tyr1170Cys | |
| XM_017009971.2:c.3509A>G | XP_016865460.1:p.Tyr1170Cys | |
| XM_017009974.2:c.3509A>G | XP_016865463.1:p.Tyr1170Cys | |
| NR_003149.2:n.3608A>G |