Linked Data
ClinVar Variation Id:
13952
dbSNP Id:
rs2435357
gnomAD v2:
10-43582056-T-C
gnomAD v3:
10-43086608-T-C
gnomAD v4:
10-43086608-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43086608T>C , CM000672.2:g.43086608T>C | GRCh38 |
| NC_000010.10:g.43582056T>C , CM000672.1:g.43582056T>C | GRCh37 |
| NC_000010.9:g.42902062T>C | NCBI36 |
| NG_007489.1:g.14540T>C , LRG_518:g.14540T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615310.5:c.73+9277T>C | ENSP00000480088.2:n.73+9277T>C | |
| ENST00000340058.6:c.73+9277T>C | ENSP00000344798.4:n.73+9277T>C | |
| ENST00000355710.8:c.73+9277T>C MANE Select | ENSP00000347942.3:n.73+9277T>C | |
| ENST00000671844.1:c.73+9277T>C | ENSP00000500541.1:n.73+9277T>C | |
| ENST00000672389.1:c.73+9277T>C | ENSP00000500252.1:n.73+9277T>C | |
| ENST00000340058.5:c.73+9277T>C | ENSP00000344798.4:n.73+9277T>C | |
| ENST00000355710.7:c.73+9277T>C | ENSP00000347942.3:n.73+9277T>C | |
| ENST00000498820.5:c.73+9277T>C | ENSP00000419080.1:n.73+9277T>C | |
| ENST00000615310.4:c.73+9277T>C | ENSP00000480088.1:n.73+9277T>C | |
| NM_020630.4:c.73+9277T>C , LRG_518t2:c.73+9277T>C | NP_065681.1:n.73+9277T>C | |
| NM_020975.4:c.73+9277T>C , LRG_518t1:c.73+9277T>C | NP_066124.1:n.73+9277T>C | |
| XM_011540027.1:c.73+9277T>C | XP_011538329.1:n.73+9277T>C | |
| NM_020630.5:c.73+9277T>C | NP_065681.1:n.73+9277T>C | |
| NM_020975.5:c.73+9277T>C | NP_066124.1:n.73+9277T>C | |
| NM_020975.6:c.73+9277T>C MANE Select | NP_066124.1:n.73+9277T>C | |
| NM_020630.6:c.73+9277T>C | NP_065681.1:n.73+9277T>C |