Linked Data
dbSNP Id:
rs143997563
ExAC:
10:127477448 C / T
gnomAD v2:
10-127477448-C-T
gnomAD v3:
10-125788879-C-T
gnomAD v4:
10-125788879-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125788879C>T , CM000672.2:g.125788879C>T | GRCh38 |
| NC_000010.10:g.127477448C>T , CM000672.1:g.127477448C>T | GRCh37 |
| NC_000010.9:g.127467438C>T | NCBI36 |
| NG_011557.1:g.39390G>A | |
| NG_011557.2:g.39390G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.787G>A | ENSP00000518871.1:p.Gly263Ser | |
| ENST00000368797.10:c.787G>A MANE Select | ENSP00000357787.4:p.Gly263Ser | |
| ENST00000465577.6:c.807G>A | ||
| ENST00000648427.1:c.*785G>A | ENSP00000497909.1:n.*785G>A | |
| ENST00000649536.1:c.787G>A | ENSP00000497817.1:p.Gly263Ser | |
| ENST00000650472.1:n.3173G>A | ||
| ENST00000650524.1:c.700G>A | ENSP00000498108.1:n.700G>A | |
| ENST00000650587.1:c.868G>A | ENSP00000497366.1:p.Gly290Ser | |
| ENST00000368786.5:c.787G>A | ENSP00000357775.1:p.Gly263Ser | |
| ENST00000368797.8:c.787G>A | ENSP00000357787.4:p.Gly263Ser | |
| ENST00000464267.1:n.884G>A | ||
| ENST00000465577.5:n.429G>A | ||
| ENST00000470483.1:n.475G>A | ||
| ENST00000484541.5:n.560G>A | ||
| ENST00000616800.4:c.161-3619G>A | ||
| ENST00000622016.4:c.241-3040G>A | ENSP00000483041.1:n.241-3040G>A | |
| NM_000375.2:c.787G>A | NP_000366.1:p.Gly263Ser | |
| XM_005270137.2:c.868G>A | XP_005270194.1:p.Gly290Ser | |
| XM_005270138.2:c.787G>A | XP_005270195.1:p.Gly263Ser | |
| XM_005270139.2:c.661-3040G>A | XP_005270196.1:n.661-3040G>A | |
| XM_006717960.2:c.868G>A | XP_006718023.1:p.Gly290Ser | |
| XM_011540127.1:c.661-3619G>A | XP_011538429.1:n.661-3619G>A | |
| XR_246103.2:n.967G>A | ||
| XR_945810.1:n.1197G>A | ||
| NM_000375.3:c.787G>A MANE Select | NP_000366.1:p.Gly263Ser | |
| NM_001324036.1:c.868G>A | NP_001310965.1:p.Gly290Ser | |
| NM_001324037.1:c.787G>A | NP_001310966.1:p.Gly263Ser | |
| NM_001324038.1:c.706G>A | NP_001310967.1:p.Gly236Ser | |
| NR_136675.1:n.872G>A | ||
| NR_136676.1:n.1299G>A | ||
| NR_136677.1:n.927-3040G>A | ||
| NR_136678.1:n.783G>A | ||
| XM_011540127.2:c.661-3619G>A | XP_011538429.1:n.661-3619G>A | |
| XM_017016611.2:c.868G>A | XP_016872100.2:p.Gly290Ser | |
| XM_017016612.2:c.661-3040G>A | XP_016872101.1:n.661-3040G>A | |
| XM_024448154.1:c.787G>A | XP_024303922.1:p.Gly263Ser | |
| XR_002957010.1:n.2126G>A | ||
| XR_246103.3:n.982G>A | ||
| XR_945810.2:n.1212G>A | ||
| NM_001324036.2:c.868G>A | NP_001310965.1:p.Gly290Ser | |
| NM_001324037.2:c.787G>A | NP_001310966.1:p.Gly263Ser | |
| NM_001324038.2:c.706G>A | NP_001310967.1:p.Gly236Ser | |
| NR_136675.2:n.862G>A | ||
| NR_136676.2:n.1289G>A | ||
| NR_136678.2:n.773G>A | ||
| NR_136677.2:n.917-3040G>A |