ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125788923G>T , CM000672.2:g.125788923G>T | GRCh38 |
| NC_000010.10:g.127477492G>T , CM000672.1:g.127477492G>T | GRCh37 |
| NC_000010.9:g.127467482G>T | NCBI36 |
| NG_011557.1:g.39346C>A | |
| NG_011557.2:g.39346C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.743C>A | ENSP00000518871.1:p.Pro248Gln | |
| ENST00000368797.10:c.743C>A MANE Select | ENSP00000357787.4:p.Pro248Gln | |
| ENST00000465577.6:c.763C>A | ||
| ENST00000648427.1:c.*741C>A | ENSP00000497909.1:n.*741C>A | |
| ENST00000649536.1:c.743C>A | ENSP00000497817.1:p.Pro248Gln | |
| ENST00000650185.1:c.893C>A | ||
| ENST00000650472.1:n.3129C>A | ||
| ENST00000650524.1:c.656C>A | ENSP00000498108.1:n.656C>A | |
| ENST00000650587.1:c.824C>A | ENSP00000497366.1:p.Pro275Gln | |
| ENST00000368786.5:c.743C>A | ENSP00000357775.1:p.Pro248Gln | |
| ENST00000368797.8:c.743C>A | ENSP00000357787.4:p.Pro248Gln | |
| ENST00000464267.1:n.840C>A | ||
| ENST00000465577.5:n.385C>A | ||
| ENST00000470483.1:n.431C>A | ||
| ENST00000484541.5:n.516C>A | ||
| ENST00000616800.4:c.161-3663C>A | ||
| ENST00000622016.4:c.241-3084C>A | ENSP00000483041.1:n.241-3084C>A | |
| NM_000375.2:c.743C>A | NP_000366.1:p.Pro248Gln | |
| XM_005270137.2:c.824C>A | XP_005270194.1:p.Pro275Gln | |
| XM_005270138.2:c.743C>A | XP_005270195.1:p.Pro248Gln | |
| XM_005270139.2:c.661-3084C>A | XP_005270196.1:n.661-3084C>A | |
| XM_006717960.2:c.824C>A | XP_006718023.1:p.Pro275Gln | |
| XM_011540127.1:c.661-3663C>A | XP_011538429.1:n.661-3663C>A | |
| XR_246103.2:n.923C>A | ||
| XR_945810.1:n.1153C>A | ||
| NM_000375.3:c.743C>A MANE Select | NP_000366.1:p.Pro248Gln | |
| NM_001324036.1:c.824C>A | NP_001310965.1:p.Pro275Gln | |
| NM_001324037.1:c.743C>A | NP_001310966.1:p.Pro248Gln | |
| NM_001324038.1:c.662C>A | NP_001310967.1:p.Pro221Gln | |
| NR_136675.1:n.828C>A | ||
| NR_136676.1:n.1255C>A | ||
| NR_136677.1:n.927-3084C>A | ||
| NR_136678.1:n.739C>A | ||
| XM_011540127.2:c.661-3663C>A | XP_011538429.1:n.661-3663C>A | |
| XM_017016611.2:c.824C>A | XP_016872100.2:p.Pro275Gln | |
| XM_017016612.2:c.661-3084C>A | XP_016872101.1:n.661-3084C>A | |
| XM_024448154.1:c.743C>A | XP_024303922.1:p.Pro248Gln | |
| XR_002957010.1:n.2082C>A | ||
| XR_246103.3:n.938C>A | ||
| XR_945810.2:n.1168C>A | ||
| NM_001324036.2:c.824C>A | NP_001310965.1:p.Pro275Gln | |
| NM_001324037.2:c.743C>A | NP_001310966.1:p.Pro248Gln | |
| NM_001324038.2:c.662C>A | NP_001310967.1:p.Pro221Gln | |
| NR_136675.2:n.818C>A | ||
| NR_136676.2:n.1245C>A | ||
| NR_136678.2:n.729C>A | ||
| NR_136677.2:n.917-3084C>A |