Linked Data
ClinVar Variation Id:
40654
dbSNP Id:
rs397517174
ERepo:
CA136165/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: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.39054822A>C , CM000664.2:g.39054822A>C | GRCh38 |
| NC_000002.11:g.39281963A>C , CM000664.1:g.39281963A>C | GRCh37 |
| NC_000002.10:g.39135467A>C | NCBI36 |
| NG_007530.1:g.70642T>G , LRG_754:g.70642T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.539T>G | ||
| ENST00000685782.1:n.1350T>G | ||
| ENST00000688189.1:n.277T>G | ||
| ENST00000689668.1:n.519T>G | ||
| ENST00000690679.1:c.612T>G | ||
| ENST00000690876.1:c.512T>G | ENSP00000508955.1:p.Val171Gly | |
| ENST00000691229.1:c.512T>G | ENSP00000510437.1:p.Val171Gly | |
| ENST00000692089.1:c.512T>G | ENSP00000508626.1:p.Val171Gly | |
| ENST00000402219.8:c.512T>G MANE Select | ENSP00000384675.2:p.Val171Gly | |
| ENST00000395038.6:c.512T>G | ENSP00000378479.2:p.Val171Gly | |
| ENST00000402219.6:c.512T>G | ENSP00000384675.2:p.Val171Gly | |
| ENST00000426016.5:c.512T>G | ENSP00000387784.1:p.Val171Gly | |
| NM_005633.3:c.512T>G , LRG_754t1:c.512T>G | NP_005624.2:p.Val171Gly | |
| XM_005264515.3:c.512T>G | XP_005264572.1:p.Val171Gly | |
| XM_011533060.1:c.605T>G | XP_011531362.1:p.Val202Gly | |
| XM_011533061.1:c.605T>G | XP_011531363.1:p.Val202Gly | |
| XM_011533062.1:c.491T>G | XP_011531364.1:p.Val164Gly | |
| XM_011533063.1:c.488T>G | XP_011531365.1:p.Val163Gly | |
| XM_011533064.1:c.341T>G | XP_011531366.1:p.Val114Gly | |
| XM_011533065.1:c.605T>G | XP_011531367.1:p.Val202Gly | |
| XM_005264515.4:c.512T>G | XP_005264572.1:p.Val171Gly | |
| XM_011533062.2:c.491T>G | XP_011531364.1:p.Val164Gly | |
| XM_011533064.2:c.341T>G | XP_011531366.1:p.Val114Gly | |
| NM_001382394.1:c.491T>G | NP_001369323.1:p.Val164Gly | |
| NM_001382395.1:c.512T>G | NP_001369324.1:p.Val171Gly | |
| NM_005633.4:c.512T>G MANE Select | NP_005624.2:p.Val171Gly |