Linked Data
ClinVar Variation Id:
1917303
ClinVar RCV Id:
RCV002598162
dbSNP Id:
rs1490892722
gnomAD v3:
8-18061384-T-C
gnomAD v4:
8-18061384-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18061384T>C , CM000670.2:g.18061384T>C | GRCh38 |
| NC_000008.10:g.17918893T>C , CM000670.1:g.17918893T>C | GRCh37 |
| NC_000008.9:g.17963173T>C | NCBI36 |
| NG_008985.1:g.28615A>G | |
| NG_008985.2:g.28615A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.826A>G | ENSP00000371152.4:p.Ser276Gly | |
| ENST00000518746.2:n.2464A>G | ||
| ENST00000520781.6:c.703A>G | ENSP00000427751.1:p.Ser235Gly | |
| ENST00000521542.2:n.86A>G | ||
| ENST00000635756.1:c.191A>G | ||
| ENST00000635944.1:c.*614A>G | ENSP00000490195.1:n.*614A>G | |
| ENST00000635998.1:c.778A>G | ENSP00000490506.1:p.Ser260Gly | |
| ENST00000636009.1:c.635A>G | ENSP00000489988.1:n.635A>G | |
| ENST00000636033.1:c.*614A>G | ENSP00000489617.1:n.*614A>G | |
| ENST00000636050.1:c.*621A>G | ENSP00000490562.1:n.*621A>G | |
| ENST00000636128.1:c.457A>G | ENSP00000489789.1:p.Ser153Gly | |
| ENST00000636160.1:c.*670A>G | ENSP00000489651.1:n.*670A>G | |
| ENST00000636171.1:c.721A>G | ENSP00000489761.1:p.Ser241Gly | |
| ENST00000636455.1:c.826A>G | ENSP00000490502.1:p.Ser276Gly | |
| ENST00000636494.1:c.*558A>G | ENSP00000490388.1:n.*558A>G | |
| ENST00000636563.1:n.440A>G | ||
| ENST00000636577.1:c.718A>G | ENSP00000490027.1:p.Ser240Gly | |
| ENST00000636691.1:c.583A>G | ENSP00000490725.1:p.Ser195Gly | |
| ENST00000636701.1:c.*429A>G | ENSP00000489800.1:n.*429A>G | |
| ENST00000636815.1:c.695A>G | ||
| ENST00000636920.1:c.*614A>G | ENSP00000490437.1:n.*614A>G | |
| ENST00000636997.1:c.691A>G | ENSP00000490093.1:p.Ser231Gly | |
| ENST00000637013.1:c.*1146A>G | ENSP00000490596.1:n.*1146A>G | |
| ENST00000637014.1:n.1185A>G | ||
| ENST00000637095.1:c.*558A>G | ENSP00000490415.1:n.*558A>G | |
| ENST00000637244.1:c.*1296A>G | ENSP00000490188.1:n.*1296A>G | |
| ENST00000637343.1:n.2215A>G | ||
| ENST00000637429.1:c.*990A>G | ENSP00000490522.1:n.*990A>G | |
| ENST00000637484.1:c.*740A>G | ENSP00000490837.1:n.*740A>G | |
| ENST00000637528.1:c.715A>G | ENSP00000490801.1:p.Ser239Gly | |
| ENST00000637609.1:n.3499A>G | ||
| ENST00000637636.1:c.772A>G | ENSP00000490112.1:p.Ser258Gly | |
| ENST00000637790.2:c.778A>G MANE Select | ENSP00000490272.1:p.Ser260Gly | |
| ENST00000637857.1:n.1144A>G | ||
| ENST00000637922.1:c.583A>G | ENSP00000490071.1:p.Ser195Gly | |
| ENST00000637991.1:c.751A>G | ENSP00000489901.1:p.Ser251Gly | |
| ENST00000638028.1:n.995A>G | ||
| ENST00000638069.1:n.1599A>G | ||
| ENST00000262097.10:c.778A>G | ENSP00000262097.6:p.Ser260Gly | |
| ENST00000314146.10:c.760A>G | ENSP00000326970.10:p.Ser254Gly | |
| ENST00000381733.8:c.826A>G | ENSP00000371152.4:p.Ser276Gly | |
| ENST00000519468.5:n.607A>G | ||
| ENST00000520781.5:c.703A>G | ENSP00000427751.1:p.Ser235Gly | |
| ENST00000521542.1:n.491A>G | ||
| NM_001127505.1:c.760A>G | NP_001120977.1:p.Ser254Gly | |
| NM_001127505.2:c.760A>G | NP_001120977.1:p.Ser254Gly | |
| NM_004315.4:c.826A>G | NP_004306.3:p.Ser276Gly | |
| NM_004315.5:c.826A>G | NP_004306.3:p.Ser276Gly | |
| NM_177924.3:c.778A>G | NP_808592.2:p.Ser260Gly | |
| NM_177924.4:c.778A>G | NP_808592.2:p.Ser260Gly | |
| XM_005273504.2:c.712A>G | XP_005273561.1:p.Ser238Gly | |
| NM_001363743.1:c.583A>G | NP_001350672.1:p.Ser195Gly | |
| XM_005273504.3:c.712A>G | XP_005273561.1:p.Ser238Gly | |
| NM_177924.5:c.778A>G MANE Select | NP_808592.2:p.Ser260Gly | |
| NM_001127505.3:c.760A>G | NP_001120977.1:p.Ser254Gly | |
| NM_001363743.2:c.583A>G | NP_001350672.1:p.Ser195Gly | |
| NM_004315.6:c.826A>G | NP_004306.3:p.Ser276Gly |