Linked Data
ClinVar Variation Id:
486316
dbSNP Id:
rs587780812
gnomAD v2:
10-43572737-C-A
gnomAD v3:
10-43077289-C-A
gnomAD v4:
10-43077289-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43077289C>A , CM000672.2:g.43077289C>A | GRCh38 |
| NC_000010.10:g.43572737C>A , CM000672.1:g.43572737C>A | GRCh37 |
| NC_000010.9:g.42892743C>A | NCBI36 |
| NG_007489.1:g.5221C>A , LRG_518:g.5221C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.31C>A | ENSP00000480088.2:p.Leu11Met | |
| ENST00000340058.6:c.31C>A | ENSP00000344798.4:p.Leu11Met | |
| ENST00000355710.8:c.31C>A MANE Select | ENSP00000347942.3:p.Leu11Met | |
| ENST00000671844.1:c.31C>A | ENSP00000500541.1:p.Leu11Met | |
| ENST00000672389.1:c.31C>A | ENSP00000500252.1:p.Leu11Met | |
| ENST00000340058.5:c.31C>A | ENSP00000344798.4:p.Leu11Met | |
| ENST00000355710.7:c.31C>A | ENSP00000347942.3:p.Leu11Met | |
| ENST00000498820.5:c.31C>A | ENSP00000419080.1:p.Leu11Met | |
| ENST00000615310.4:c.31C>A | ENSP00000480088.1:p.Leu11Met | |
| NM_020630.4:c.31C>A , LRG_518t2:c.31C>A | NP_065681.1:p.Leu11Met | |
| NM_020975.4:c.31C>A , LRG_518t1:c.31C>A | NP_066124.1:p.Leu11Met | |
| XM_011540027.1:c.31C>A | XP_011538329.1:p.Leu11Met | |
| NM_020630.5:c.31C>A | NP_065681.1:p.Leu11Met | |
| NM_020975.5:c.31C>A | NP_066124.1:p.Leu11Met | |
| NM_020975.6:c.31C>A MANE Select | NP_066124.1:p.Leu11Met | |
| NM_020630.6:c.31C>A | NP_065681.1:p.Leu11Met |