Linked Data
ClinVar Variation Id:
1795647
ClinVar RCV Id:
RCV002439457
dbSNP Id:
rs778330709
ExAC:
10:43617422 T / C
gnomAD v2:
10-43617422-T-C
gnomAD v4:
10-43121974-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43121974T>C , CM000672.2:g.43121974T>C | GRCh38 |
| NC_000010.10:g.43617422T>C , CM000672.1:g.43617422T>C | GRCh37 |
| NC_000010.9:g.42937428T>C | NCBI36 |
| NG_007489.1:g.49906T>C , LRG_518:g.49906T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2363T>C | ENSP00000480088.2:p.Ile788Thr | |
| ENST00000683007.1:n.2333T>C | ||
| ENST00000340058.6:c.2759T>C | ENSP00000344798.4:p.Ile920Thr | |
| ENST00000355710.8:c.2759T>C MANE Select | ENSP00000347942.3:p.Ile920Thr | |
| ENST00000671844.1:c.*1353T>C | ENSP00000500541.1:n.*1353T>C | |
| ENST00000672389.1:c.*1353T>C | ENSP00000500252.1:n.*1353T>C | |
| ENST00000340058.5:c.2759T>C | ENSP00000344798.4:p.Ile920Thr | |
| ENST00000355710.7:c.2759T>C | ENSP00000347942.3:p.Ile920Thr | |
| ENST00000615310.4:c.*108T>C | ENSP00000480088.1:n.*108T>C | |
| NM_020630.4:c.2759T>C , LRG_518t2:c.2759T>C | NP_065681.1:p.Ile920Thr | |
| NM_020975.4:c.2759T>C , LRG_518t1:c.2759T>C | NP_066124.1:p.Ile920Thr | |
| XM_011540027.1:c.2759T>C | XP_011538329.1:p.Ile920Thr | |
| NM_001355216.1:c.1997T>C | NP_001342145.1:p.Ile666Thr | |
| NM_020630.5:c.2759T>C | NP_065681.1:p.Ile920Thr | |
| NM_020975.5:c.2759T>C | NP_066124.1:p.Ile920Thr | |
| NM_020975.6:c.2759T>C MANE Select | NP_066124.1:p.Ile920Thr | |
| NM_020630.6:c.2759T>C | NP_065681.1:p.Ile920Thr |