Linked Data
ClinVar Variation Id:
1096022
ClinVar RCV Id:
RCV001417145
dbSNP Id:
rs116302615
ExAC:
5:149360143 T / A
gnomAD v2:
5-149360143-T-A
gnomAD v4:
5-149980580-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980580T>A , CM000667.2:g.149980580T>A | GRCh38 |
| NC_000005.9:g.149360143T>A , CM000667.1:g.149360143T>A | GRCh37 |
| NC_000005.8:g.149340336T>A | NCBI36 |
| NG_007147.2:g.21698T>A , LRG_684:g.21698T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.987T>A MANE Select | ENSP00000286298.4:p.Leu329= | |
| ENST00000286298.4:c.987T>A | ENSP00000286298.4:p.Leu329= | |
| ENST00000503336.1:c.372+2229T>A | ENSP00000426053.1:n.372+2229T>A | |
| NM_000112.3:c.987T>A , LRG_684t1:c.987T>A | NP_000103.2:p.Leu329= | |
| XM_017009191.2:c.987T>A | XP_016864680.1:p.Leu329= | |
| NM_000112.4:c.987T>A MANE Select | NP_000103.2:p.Leu329= |