Linked Data
ClinVar Variation Id:
16134
ClinVar RCV Id:
RCV000020167
RCV000498792
RCV001269032
RCV002362586
RCV003147295
RCV003147296
RCV003883118
dbSNP Id:
rs80356655
ExAC:
7:44187429 G / A
gnomAD v2:
7-44187429-G-A
gnomAD v4:
7-44147830-G-A
PubMed:
PMID:1502186
PMID:9049484
PMID:10525657
PMID:11372010
PMID:17573900
PMID:20301620
PMID:21569204
ERepo:
CA260620/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44147830G>A , CM000669.2:g.44147830G>A | GRCh38 |
| NC_000007.13:g.44187429G>A , CM000669.1:g.44187429G>A | GRCh37 |
| NC_000007.12:g.44153954G>A | NCBI36 |
| NG_008847.1:g.46594C>T | |
| NG_008847.2:g.55341C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*681C>T | ENSP00000379142.4:n.*681C>T | |
| ENST00000616242.5:c.683C>T | ENSP00000482149.2:p.Thr228Met | |
| ENST00000345378.7:c.686C>T | ENSP00000223366.2:p.Thr229Met | |
| ENST00000403799.8:c.683C>T MANE Select | ENSP00000384247.3:p.Thr228Met | |
| ENST00000671824.1:c.683C>T | ENSP00000500264.1:p.Thr228Met | |
| ENST00000673284.1:c.683C>T | ENSP00000499852.1:p.Thr228Met | |
| ENST00000345378.6:c.686C>T | ENSP00000223366.2:p.Thr229Met | |
| ENST00000395796.7:c.680C>T | ENSP00000379142.3:p.Thr227Met | |
| ENST00000403799.7:c.683C>T | ENSP00000384247.3:p.Thr228Met | |
| ENST00000437084.1:c.632C>T | ENSP00000402840.1:p.Thr211Met | |
| ENST00000616242.4:c.680C>T | ENSP00000482149.1:p.Thr227Met | |
| NM_000162.3:c.683C>T | NP_000153.1:p.Thr228Met | |
| NM_033507.1:c.686C>T | NP_277042.1:p.Thr229Met | |
| NM_033508.1:c.680C>T | NP_277043.1:p.Thr227Met | |
| XR_927223.1:n.82+82G>A | ||
| NM_000162.4:c.683C>T | NP_000153.1:p.Thr228Met | |
| NM_001354800.1:c.683C>T | NP_001341729.1:p.Thr228Met | |
| NM_033507.2:c.686C>T | NP_277042.1:p.Thr229Met | |
| NM_033508.2:c.680C>T | NP_277043.1:p.Thr227Met | |
| XR_927223.2:n.82+82G>A | ||
| NM_000162.5:c.683C>T MANE Select | NP_000153.1:p.Thr228Met | |
| NM_033507.3:c.686C>T | NP_277042.1:p.Thr229Met | |
| NM_033508.3:c.680C>T | NP_277043.1:p.Thr227Met |