Linked Data
ClinVar Variation Id:
13948
ClinVar RCV Id:
RCV000014975
RCV000410425
RCV000148783
RCV000411688
RCV000563865
RCV000704911
RCV002490367
RCV003398513
dbSNP Id:
rs79853121
ExAC:
10:43622099 C / T
gnomAD v2:
10-43622099-C-T
gnomAD v3:
10-43126651-C-T
gnomAD v4:
10-43126651-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43126651C>T , CM000672.2:g.43126651C>T | GRCh38 |
| NC_000010.10:g.43622099C>T , CM000672.1:g.43622099C>T | GRCh37 |
| NC_000010.9:g.42942105C>T | NCBI36 |
| NG_007489.1:g.54583C>T , LRG_518:g.54583C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2720C>T | ENSP00000480088.2:p.Pro907Leu | |
| ENST00000683007.1:n.2690C>T | ||
| ENST00000340058.6:c.3116C>T | ENSP00000344798.4:p.Pro1039Leu | |
| ENST00000355710.8:c.3116C>T MANE Select | ENSP00000347942.3:p.Pro1039Leu | |
| ENST00000671844.1:c.*1710C>T | ENSP00000500541.1:n.*1710C>T | |
| ENST00000672389.1:c.*1710C>T | ENSP00000500252.1:n.*1710C>T | |
| ENST00000340058.5:c.3116C>T | ENSP00000344798.4:p.Pro1039Leu | |
| ENST00000355710.7:c.3116C>T | ENSP00000347942.3:p.Pro1039Leu | |
| ENST00000615310.4:c.*465C>T | ENSP00000480088.1:n.*465C>T | |
| NM_020630.4:c.3116C>T , LRG_518t2:c.3116C>T | NP_065681.1:p.Pro1039Leu | |
| NM_020975.4:c.3116C>T , LRG_518t1:c.3116C>T | NP_066124.1:p.Pro1039Leu | |
| XM_011540027.1:c.3116C>T | XP_011538329.1:p.Pro1039Leu | |
| NM_001355216.1:c.2354C>T | NP_001342145.1:p.Pro785Leu | |
| NM_020630.5:c.3116C>T | NP_065681.1:p.Pro1039Leu | |
| NM_020975.5:c.3116C>T | NP_066124.1:p.Pro1039Leu | |
| NM_020975.6:c.3116C>T MANE Select | NP_066124.1:p.Pro1039Leu | |
| NM_020630.6:c.3116C>T | NP_065681.1:p.Pro1039Leu |