Linked Data
dbSNP Id:
rs1850719990
gnomAD v3:
10-125788877-G-T
gnomAD v4:
10-125788877-G-T
MyVariant Identifiers:
chr10:g.127477446G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125788877G>T , CM000672.2:g.125788877G>T | GRCh38 |
| NC_000010.10:g.127477446G>T , CM000672.1:g.127477446G>T | GRCh37 |
| NC_000010.9:g.127467436G>T | NCBI36 |
| NG_011557.1:g.39392C>A | |
| NG_011557.2:g.39392C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.789C>A | ENSP00000518871.1:p.Gly263= | |
| ENST00000368797.10:c.789C>A MANE Select | ENSP00000357787.4:p.Gly263= | |
| ENST00000465577.6:c.809C>A | ||
| ENST00000648427.1:c.*787C>A | ENSP00000497909.1:n.*787C>A | |
| ENST00000649536.1:c.789C>A | ENSP00000497817.1:p.Gly263= | |
| ENST00000650472.1:n.3175C>A | ||
| ENST00000650524.1:c.702C>A | ENSP00000498108.1:n.702C>A | |
| ENST00000650587.1:c.870C>A | ENSP00000497366.1:p.Gly290= | |
| ENST00000368786.5:c.789C>A | ENSP00000357775.1:p.Gly263= | |
| ENST00000368797.8:c.789C>A | ENSP00000357787.4:p.Gly263= | |
| ENST00000464267.1:n.886C>A | ||
| ENST00000465577.5:n.431C>A | ||
| ENST00000470483.1:n.477C>A | ||
| ENST00000484541.5:n.562C>A | ||
| ENST00000616800.4:c.161-3617C>A | ||
| ENST00000622016.4:c.241-3038C>A | ENSP00000483041.1:n.241-3038C>A | |
| NM_000375.2:c.789C>A | NP_000366.1:p.Gly263= | |
| XM_005270137.2:c.870C>A | XP_005270194.1:p.Gly290= | |
| XM_005270138.2:c.789C>A | XP_005270195.1:p.Gly263= | |
| XM_005270139.2:c.661-3038C>A | XP_005270196.1:n.661-3038C>A | |
| XM_006717960.2:c.870C>A | XP_006718023.1:p.Gly290= | |
| XM_011540127.1:c.661-3617C>A | XP_011538429.1:n.661-3617C>A | |
| XR_246103.2:n.969C>A | ||
| XR_945810.1:n.1199C>A | ||
| NM_000375.3:c.789C>A MANE Select | NP_000366.1:p.Gly263= | |
| NM_001324036.1:c.870C>A | NP_001310965.1:p.Gly290= | |
| NM_001324037.1:c.789C>A | NP_001310966.1:p.Gly263= | |
| NM_001324038.1:c.708C>A | NP_001310967.1:p.Gly236= | |
| NR_136675.1:n.874C>A | ||
| NR_136676.1:n.1301C>A | ||
| NR_136677.1:n.927-3038C>A | ||
| NR_136678.1:n.785C>A | ||
| XM_011540127.2:c.661-3617C>A | XP_011538429.1:n.661-3617C>A | |
| XM_017016611.2:c.870C>A | XP_016872100.2:p.Gly290= | |
| XM_017016612.2:c.661-3038C>A | XP_016872101.1:n.661-3038C>A | |
| XM_024448154.1:c.789C>A | XP_024303922.1:p.Gly263= | |
| XR_002957010.1:n.2128C>A | ||
| XR_246103.3:n.984C>A | ||
| XR_945810.2:n.1214C>A | ||
| NM_001324036.2:c.870C>A | NP_001310965.1:p.Gly290= | |
| NM_001324037.2:c.789C>A | NP_001310966.1:p.Gly263= | |
| NM_001324038.2:c.708C>A | NP_001310967.1:p.Gly236= | |
| NR_136675.2:n.864C>A | ||
| NR_136676.2:n.1291C>A | ||
| NR_136678.2:n.775C>A | ||
| NR_136677.2:n.917-3038C>A |