Linked Data
dbSNP Id:
rs1166569734
gnomAD v2:
5-90041498-C-G
gnomAD v3:
5-90745681-C-G
gnomAD v4:
5-90745681-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90745681C>G , CM000667.2:g.90745681C>G | GRCh38 |
| NC_000005.9:g.90041498C>G , CM000667.1:g.90041498C>G | GRCh37 |
| NC_000005.8:g.90077254C>G | NCBI36 |
| NG_007083.1:g.191882C>G | |
| NG_007083.2:g.221338C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.10860C>G MANE Select | ENSP00000384582.2:p.Ser3620= | |
| ENST00000639431.1:c.265+69472C>G | ENSP00000491057.1:n.265+69472C>G | |
| ENST00000640374.1:n.4004C>G | ||
| ENST00000640464.1:n.1279C>G | ||
| ENST00000405460.6:c.10860C>G | ENSP00000384582.2:p.Ser3620= | |
| ENST00000509621.1:c.3557C>G | ||
| NM_032119.3:c.10860C>G | NP_115495.3:p.Ser3620= | |
| NR_003149.1:n.10873C>G | ||
| XM_011543675.1:c.10857C>G | XP_011541977.1:p.Ser3619= | |
| XM_011543676.1:c.10779C>G | XP_011541978.1:p.Ser3593= | |
| XM_011543677.1:c.8163C>G | XP_011541979.1:p.Ser2721= | |
| XM_011543678.1:c.10860C>G | XP_011541980.1:p.Ser3620= | |
| XM_011543679.1:c.*82C>G | XP_011541981.1:n.*82C>G | |
| NM_032119.4:c.10860C>G MANE Select | NP_115495.3:p.Ser3620= | |
| XM_017009963.2:c.10881C>G | XP_016865452.1:p.Ser3627= | |
| XM_017009964.2:c.10878C>G | XP_016865453.1:p.Ser3626= | |
| XM_017009965.1:c.10878C>G | XP_016865454.1:p.Ser3626= | |
| XM_017009966.2:c.10800C>G | XP_016865455.1:p.Ser3600= | |
| XM_017009967.1:c.10785C>G | XP_016865456.1:p.Ser3595= | |
| XM_017009968.2:c.10881C>G | XP_016865457.1:p.Ser3627= | |
| XM_017009969.2:c.10881C>G | XP_016865458.1:p.Ser3627= | |
| XM_017009970.2:c.10881C>G | XP_016865459.1:p.Ser3627= | |
| XM_017009971.2:c.10881C>G | XP_016865460.1:p.Ser3627= | |
| XM_017009972.1:c.3999C>G | XP_016865461.1:p.Ser1333= | |
| XM_017009973.1:c.3978C>G | XP_016865462.1:p.Ser1326= | |
| XM_017009974.2:c.*82C>G | XP_016865463.1:n.*82C>G | |
| NR_003149.2:n.10876C>G |