Linked Data
ClinVar Variation Id:
3754
dbSNP Id:
rs121908014
ExAC:
10:127477552 G / A
gnomAD v2:
10-127477552-G-A
gnomAD v3:
10-125788983-G-A
gnomAD v4:
10-125788983-G-A
COSMIC:
COSM5795535
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125788983G>A , CM000672.2:g.125788983G>A | GRCh38 |
| NC_000010.10:g.127477552G>A , CM000672.1:g.127477552G>A | GRCh37 |
| NC_000010.9:g.127467542G>A | NCBI36 |
| NG_011557.1:g.39286C>T | |
| NG_011557.2:g.39286C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.683C>T | ENSP00000518871.1:p.Thr228Met | |
| ENST00000368797.10:c.683C>T MANE Select | ENSP00000357787.4:p.Thr228Met | |
| ENST00000465577.6:c.703C>T | ||
| ENST00000648427.1:c.*681C>T | ENSP00000497909.1:n.*681C>T | |
| ENST00000649536.1:c.683C>T | ENSP00000497817.1:p.Thr228Met | |
| ENST00000650185.1:c.833C>T | ||
| ENST00000650472.1:n.3069C>T | ||
| ENST00000650524.1:c.596C>T | ENSP00000498108.1:n.596C>T | |
| ENST00000650587.1:c.764C>T | ENSP00000497366.1:p.Thr255Met | |
| ENST00000368786.5:c.683C>T | ENSP00000357775.1:p.Thr228Met | |
| ENST00000368797.8:c.683C>T | ENSP00000357787.4:p.Thr228Met | |
| ENST00000464267.1:n.780C>T | ||
| ENST00000465577.5:n.325C>T | ||
| ENST00000470483.1:n.371C>T | ||
| ENST00000484541.5:n.456C>T | ||
| ENST00000616800.4:c.161-3723C>T | ||
| ENST00000622016.4:c.241-3144C>T | ENSP00000483041.1:n.241-3144C>T | |
| NM_000375.2:c.683C>T | NP_000366.1:p.Thr228Met | |
| XM_005270137.2:c.764C>T | XP_005270194.1:p.Thr255Met | |
| XM_005270138.2:c.683C>T | XP_005270195.1:p.Thr228Met | |
| XM_005270139.2:c.661-3144C>T | XP_005270196.1:n.661-3144C>T | |
| XM_006717960.2:c.764C>T | XP_006718023.1:p.Thr255Met | |
| XM_011540127.1:c.661-3723C>T | XP_011538429.1:n.661-3723C>T | |
| XR_246103.2:n.863C>T | ||
| XR_945810.1:n.1093C>T | ||
| NM_000375.3:c.683C>T MANE Select | NP_000366.1:p.Thr228Met | |
| NM_001324036.1:c.764C>T | NP_001310965.1:p.Thr255Met | |
| NM_001324037.1:c.683C>T | NP_001310966.1:p.Thr228Met | |
| NM_001324038.1:c.602C>T | NP_001310967.1:p.Thr201Met | |
| NR_136675.1:n.768C>T | ||
| NR_136676.1:n.1195C>T | ||
| NR_136677.1:n.927-3144C>T | ||
| NR_136678.1:n.679C>T | ||
| XM_011540127.2:c.661-3723C>T | XP_011538429.1:n.661-3723C>T | |
| XM_017016611.2:c.764C>T | XP_016872100.2:p.Thr255Met | |
| XM_017016612.2:c.661-3144C>T | XP_016872101.1:n.661-3144C>T | |
| XM_024448154.1:c.683C>T | XP_024303922.1:p.Thr228Met | |
| XR_002957010.1:n.2022C>T | ||
| XR_246103.3:n.878C>T | ||
| XR_945810.2:n.1108C>T | ||
| NM_001324036.2:c.764C>T | NP_001310965.1:p.Thr255Met | |
| NM_001324037.2:c.683C>T | NP_001310966.1:p.Thr228Met | |
| NM_001324038.2:c.602C>T | NP_001310967.1:p.Thr201Met | |
| NR_136675.2:n.758C>T | ||
| NR_136676.2:n.1185C>T | ||
| NR_136678.2:n.669C>T | ||
| NR_136677.2:n.917-3144C>T |