Linked Data
ClinVar Variation Id:
136115
ClinVar RCV Id:
RCV000163463
RCV000679744
RCV000663277
RCV000761007
RCV001106024
RCV001108239
RCV001083486
RCV001106025
RCV001818296
RCV004528841
RCV001108238
dbSNP Id:
rs201740483
ExAC:
10:43622095 A / G
gnomAD v2:
10-43622095-A-G
gnomAD v3:
10-43126647-A-G
gnomAD v4:
10-43126647-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43126647A>G , CM000672.2:g.43126647A>G | GRCh38 |
| NC_000010.10:g.43622095A>G , CM000672.1:g.43622095A>G | GRCh37 |
| NC_000010.9:g.42942101A>G | NCBI36 |
| NG_007489.1:g.54579A>G , LRG_518:g.54579A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2716A>G | ENSP00000480088.2:p.Thr906Ala | |
| ENST00000683007.1:n.2686A>G | ||
| ENST00000340058.6:c.3112A>G | ENSP00000344798.4:p.Thr1038Ala | |
| ENST00000355710.8:c.3112A>G MANE Select | ENSP00000347942.3:p.Thr1038Ala | |
| ENST00000671844.1:c.*1706A>G | ENSP00000500541.1:n.*1706A>G | |
| ENST00000672389.1:c.*1706A>G | ENSP00000500252.1:n.*1706A>G | |
| ENST00000340058.5:c.3112A>G | ENSP00000344798.4:p.Thr1038Ala | |
| ENST00000355710.7:c.3112A>G | ENSP00000347942.3:p.Thr1038Ala | |
| ENST00000615310.4:c.*461A>G | ENSP00000480088.1:n.*461A>G | |
| NM_020630.4:c.3112A>G , LRG_518t2:c.3112A>G | NP_065681.1:p.Thr1038Ala | |
| NM_020975.4:c.3112A>G , LRG_518t1:c.3112A>G | NP_066124.1:p.Thr1038Ala | |
| XM_011540027.1:c.3112A>G | XP_011538329.1:p.Thr1038Ala | |
| NM_001355216.1:c.2350A>G | NP_001342145.1:p.Thr784Ala | |
| NM_020630.5:c.3112A>G | NP_065681.1:p.Thr1038Ala | |
| NM_020975.5:c.3112A>G | NP_066124.1:p.Thr1038Ala | |
| NM_020975.6:c.3112A>G MANE Select | NP_066124.1:p.Thr1038Ala | |
| NM_020630.6:c.3112A>G | NP_065681.1:p.Thr1038Ala |