Linked Data
ClinVar Variation Id:
40662
ClinVar RCV Id:
RCV000157690
RCV000208414
RCV000487454
RCV000539275
RCV001813283
RCV002415451
RCV003150936
dbSNP Id:
rs137852813
gnomAD v4:
2-39051202-A-G
ERepo:
CA235344/MONDO:0018997/004
PubMed:
PMID:11868160
PMID:16773572
PMID:17143282
PMID:17143285
PMID:17510059
PMID:17586837
PMID:18651097
PMID:19020799
PMID:19077116
PMID:19438935
PMID:19467855
PMID:19953625
PMID:20683980
PMID:21387466
PMID:21396583
PMID:21784453
PMID:22551697
PMID:22604720
PMID:23165751
PMID:25073238
PMID:25180280
PMID:26249544
PMID:26708403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39051202A>G , CM000664.2:g.39051202A>G | GRCh38 |
| NC_000002.11:g.39278343A>G , CM000664.1:g.39278343A>G | GRCh37 |
| NC_000002.10:g.39131847A>G | NCBI36 |
| NG_007530.1:g.74262T>C , LRG_754:g.74262T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.833T>C | ||
| ENST00000472480.2:n.686T>C | ||
| ENST00000685782.1:n.1644T>C | ||
| ENST00000689668.1:n.813T>C | ||
| ENST00000690679.1:c.906T>C | ||
| ENST00000690876.1:c.806T>C | ENSP00000508955.1:p.Met269Thr | |
| ENST00000691229.1:c.806T>C | ENSP00000510437.1:p.Met269Thr | |
| ENST00000692089.1:c.806T>C | ENSP00000508626.1:p.Met269Thr | |
| ENST00000402219.8:c.806T>C MANE Select | ENSP00000384675.2:p.Met269Thr | |
| ENST00000395038.6:c.806T>C | ENSP00000378479.2:p.Met269Thr | |
| ENST00000402219.6:c.806T>C | ENSP00000384675.2:p.Met269Thr | |
| ENST00000426016.5:c.806T>C | ENSP00000387784.1:p.Met269Thr | |
| ENST00000461545.1:n.156T>C | ||
| NM_005633.3:c.806T>C , LRG_754t1:c.806T>C | NP_005624.2:p.Met269Thr | |
| XM_005264515.3:c.806T>C | XP_005264572.1:p.Met269Thr | |
| XM_011533060.1:c.899T>C | XP_011531362.1:p.Met300Thr | |
| XM_011533061.1:c.899T>C | XP_011531363.1:p.Met300Thr | |
| XM_011533062.1:c.785T>C | XP_011531364.1:p.Met262Thr | |
| XM_011533063.1:c.782T>C | XP_011531365.1:p.Met261Thr | |
| XM_011533064.1:c.635T>C | XP_011531366.1:p.Met212Thr | |
| XM_011533065.1:c.899T>C | XP_011531367.1:p.Met300Thr | |
| XM_005264515.4:c.806T>C | XP_005264572.1:p.Met269Thr | |
| XM_011533062.2:c.785T>C | XP_011531364.1:p.Met262Thr | |
| XM_011533064.2:c.635T>C | XP_011531366.1:p.Met212Thr | |
| NM_001382394.1:c.785T>C | NP_001369323.1:p.Met262Thr | |
| NM_001382395.1:c.806T>C | NP_001369324.1:p.Met269Thr | |
| NM_005633.4:c.806T>C MANE Select | NP_005624.2:p.Met269Thr |