Linked Data
ClinVar Variation Id:
24947
ClinVar RCV Id:
RCV000148778
RCV000575365
RCV000662511
RCV000691895
RCV000782197
RCV001818175
RCV001535741
RCV002477003
dbSNP Id:
rs149891333
ExAC:
10:43615108 C / T
gnomAD v2:
10-43615108-C-T
gnomAD v3:
10-43119660-C-T
gnomAD v4:
10-43119660-C-T
COSMIC:
COSM1223554
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43119660C>T , CM000672.2:g.43119660C>T | GRCh38 |
| NC_000010.10:g.43615108C>T , CM000672.1:g.43615108C>T | GRCh37 |
| NC_000010.9:g.42935114C>T | NCBI36 |
| NG_007489.1:g.47592C>T , LRG_518:g.47592C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2126C>T | ENSP00000480088.2:p.Pro709Leu | |
| ENST00000683007.1:n.2096C>T | ||
| ENST00000683872.1:n.2087C>T | ||
| ENST00000340058.6:c.2522C>T | ENSP00000344798.4:p.Pro841Leu | |
| ENST00000355710.8:c.2522C>T MANE Select | ENSP00000347942.3:p.Pro841Leu | |
| ENST00000671844.1:c.*1116C>T | ENSP00000500541.1:n.*1116C>T | |
| ENST00000672389.1:c.*1116C>T | ENSP00000500252.1:n.*1116C>T | |
| ENST00000340058.5:c.2522C>T | ENSP00000344798.4:p.Pro841Leu | |
| ENST00000355710.7:c.2522C>T | ENSP00000347942.3:p.Pro841Leu | |
| ENST00000615310.4:c.1290-42C>T | ENSP00000480088.1:n.1290-42C>T | |
| NM_020630.4:c.2522C>T , LRG_518t2:c.2522C>T | NP_065681.1:p.Pro841Leu | |
| NM_020975.4:c.2522C>T , LRG_518t1:c.2522C>T | NP_066124.1:p.Pro841Leu | |
| XM_011540027.1:c.2522C>T | XP_011538329.1:p.Pro841Leu | |
| NM_001355216.1:c.1760C>T | NP_001342145.1:p.Pro587Leu | |
| NM_020630.5:c.2522C>T | NP_065681.1:p.Pro841Leu | |
| NM_020975.5:c.2522C>T | NP_066124.1:p.Pro841Leu | |
| NM_020975.6:c.2522C>T MANE Select | NP_066124.1:p.Pro841Leu | |
| NM_020630.6:c.2522C>T | NP_065681.1:p.Pro841Leu |