Linked Data
ClinVar Variation Id:
135177
ClinVar RCV Id:
RCV000121979
RCV000202914
RCV000410377
RCV000411486
RCV000462996
RCV000573705
RCV002492438
RCV003151746
RCV003460858
dbSNP Id:
rs181856591
ExAC:
10:43612156 C / T
gnomAD v2:
10-43612156-C-T
gnomAD v3:
10-43116708-C-T
gnomAD v4:
10-43116708-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43116708C>T , CM000672.2:g.43116708C>T | GRCh38 |
| NC_000010.10:g.43612156C>T , CM000672.1:g.43612156C>T | GRCh37 |
| NC_000010.9:g.42932162C>T | NCBI36 |
| NG_007489.1:g.44640C>T , LRG_518:g.44640C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1865C>T | ENSP00000480088.2:p.Thr622Met | |
| ENST00000683007.1:n.1835C>T | ||
| ENST00000683872.1:n.1826C>T | ||
| ENST00000340058.6:c.2261C>T | ENSP00000344798.4:p.Thr754Met | |
| ENST00000355710.8:c.2261C>T MANE Select | ENSP00000347942.3:p.Thr754Met | |
| ENST00000671844.1:c.*855C>T | ENSP00000500541.1:n.*855C>T | |
| ENST00000672389.1:c.*855C>T | ENSP00000500252.1:n.*855C>T | |
| ENST00000340058.5:c.2261C>T | ENSP00000344798.4:p.Thr754Met | |
| ENST00000355710.7:c.2261C>T | ENSP00000347942.3:p.Thr754Met | |
| ENST00000615310.4:c.1290-2994C>T | ENSP00000480088.1:n.1290-2994C>T | |
| NM_020630.4:c.2261C>T , LRG_518t2:c.2261C>T | NP_065681.1:p.Thr754Met | |
| NM_020975.4:c.2261C>T , LRG_518t1:c.2261C>T | NP_066124.1:p.Thr754Met | |
| XM_011540027.1:c.2261C>T | XP_011538329.1:p.Thr754Met | |
| NM_001355216.1:c.1499C>T | NP_001342145.1:p.Thr500Met | |
| NM_020630.5:c.2261C>T | NP_065681.1:p.Thr754Met | |
| NM_020975.5:c.2261C>T | NP_066124.1:p.Thr754Met | |
| NM_020975.6:c.2261C>T MANE Select | NP_066124.1:p.Thr754Met | |
| NM_020630.6:c.2261C>T | NP_065681.1:p.Thr754Met |