Linked Data
ClinVar Variation Id:
534378
dbSNP Id:
rs1455783076
gnomAD v2:
1-161326628-T-A
gnomAD v4:
1-161356838-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161356838T>A , CM000663.2:g.161356838T>A | GRCh38 |
| NC_000001.10:g.161326628T>A , CM000663.1:g.161326628T>A | GRCh37 |
| NC_000001.9:g.159593252T>A | NCBI36 |
| NG_012767.1:g.47463T>A , LRG_317:g.47463T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.*404T>A | ENSP00000482902.2:n.*404T>A | |
| ENST00000367975.7:c.403T>A MANE Select | ENSP00000356953.3:p.Leu135Met | |
| ENST00000342751.8:c.242-5491T>A | ENSP00000356952.3:n.242-5491T>A | |
| ENST00000367975.6:c.403T>A | ENSP00000356953.2:p.Leu135Met | |
| ENST00000392169.6:c.244T>A | ENSP00000376009.2:p.Leu82Met | |
| ENST00000432287.6:c.301T>A | ENSP00000390558.2:p.Leu101Met | |
| ENST00000470743.4:c.501T>A | ||
| ENST00000504963.5:c.*226T>A | ENSP00000423929.1:n.*226T>A | |
| ENST00000513009.5:c.140-5491T>A | ENSP00000423260.1:n.140-5491T>A | |
| NM_001035511.1:c.242-5491T>A | NP_001030588.1:n.242-5491T>A | |
| NM_001035512.1:c.301T>A | NP_001030589.1:p.Leu101Met | |
| NM_001035513.1:c.244T>A | NP_001030590.1:p.Leu82Met | |
| NM_001278172.1:c.140-5491T>A | NP_001265101.1:n.140-5491T>A | |
| NM_003001.3:c.403T>A , LRG_317t1:c.403T>A | NP_002992.1:p.Leu135Met | |
| NR_103459.1:n.460T>A | ||
| NM_001035511.2:c.242-5491T>A | NP_001030588.1:n.242-5491T>A | |
| NM_001035512.2:c.301T>A | NP_001030589.1:p.Leu101Met | |
| NM_001035513.2:c.244T>A | NP_001030590.1:p.Leu82Met | |
| NM_001278172.2:c.140-5491T>A | NP_001265101.1:n.140-5491T>A | |
| NM_003001.5:c.403T>A MANE Select | NP_002992.1:p.Leu135Met | |
| NR_103459.2:n.455T>A |