Linked Data
ClinVar Variation Id:
40697
ClinVar RCV Id:
RCV000038529
RCV000206629
RCV000224003
RCV000272488
RCV000852769
RCV001094653
RCV001258236
RCV001813293
RCV002415454
RCV002496503
dbSNP Id:
rs140811086
ExAC:
2:39240646 C / T
gnomAD v2:
2-39240646-C-T
gnomAD v3:
2-39013505-C-T
gnomAD v4:
2-39013505-C-T
ERepo:
CA136094/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39013505C>T , CM000664.2:g.39013505C>T | GRCh38 |
| NC_000002.11:g.39240646C>T , CM000664.1:g.39240646C>T | GRCh37 |
| NC_000002.10:g.39094150C>T | NCBI36 |
| NG_007530.1:g.111959G>A , LRG_754:g.111959G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.889G>A | ENSP00000509424.1:p.Ala297Thr | |
| ENST00000688043.1:n.2343G>A | ||
| ENST00000689668.1:n.2129G>A | ||
| ENST00000690514.1:n.211G>A | ||
| ENST00000690876.1:c.2011G>A | ENSP00000508955.1:p.Ala671Thr | |
| ENST00000691229.1:c.2011G>A | ENSP00000510437.1:p.Ala671Thr | |
| ENST00000692089.1:c.2011G>A | ENSP00000508626.1:p.Ala671Thr | |
| ENST00000692620.1:c.889G>A | ENSP00000509311.1:p.Ala297Thr | |
| ENST00000402219.8:c.2122G>A MANE Select | ENSP00000384675.2:p.Ala708Thr | |
| ENST00000395038.6:c.2122G>A | ENSP00000378479.2:p.Ala708Thr | |
| ENST00000402219.6:c.2122G>A | ENSP00000384675.2:p.Ala708Thr | |
| ENST00000426016.5:c.2122G>A | ENSP00000387784.1:p.Ala708Thr | |
| NM_005633.3:c.2122G>A , LRG_754t1:c.2122G>A | NP_005624.2:p.Ala708Thr | |
| XM_005264515.3:c.2122G>A | XP_005264572.1:p.Ala708Thr | |
| XM_011533060.1:c.2215G>A | XP_011531362.1:p.Ala739Thr | |
| XM_011533061.1:c.2215G>A | XP_011531363.1:p.Ala739Thr | |
| XM_011533062.1:c.2101G>A | XP_011531364.1:p.Ala701Thr | |
| XM_011533063.1:c.2098G>A | XP_011531365.1:p.Ala700Thr | |
| XM_011533064.1:c.1951G>A | XP_011531366.1:p.Ala651Thr | |
| XM_011533065.1:c.2215G>A | XP_011531367.1:p.Ala739Thr | |
| XM_011533066.1:c.1057G>A | XP_011531368.1:p.Ala353Thr | |
| XM_005264515.4:c.2122G>A | XP_005264572.1:p.Ala708Thr | |
| XM_011533062.2:c.2101G>A | XP_011531364.1:p.Ala701Thr | |
| XM_011533064.2:c.1951G>A | XP_011531366.1:p.Ala651Thr | |
| NM_001382394.1:c.2101G>A | NP_001369323.1:p.Ala701Thr | |
| NM_001382395.1:c.2122G>A | NP_001369324.1:p.Ala708Thr | |
| NM_005633.4:c.2122G>A MANE Select | NP_005624.2:p.Ala708Thr |