Linked Data
ClinVar Variation Id:
13516
dbSNP Id:
rs267606959
ExAC:
15:89862217 G / A
gnomAD v2:
15-89862217-G-A
gnomAD v4:
15-89318986-G-A
PubMed:
PMID:20142534
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318986G>A , CM000677.2:g.89318986G>A | GRCh38 |
| NC_000015.9:g.89862217G>A , CM000677.1:g.89862217G>A | GRCh37 |
| NC_000015.8:g.87663221G>A | NCBI36 |
| NG_008218.1:g.20810C>T | |
| NG_011736.1:g.80024G>A , LRG_500:g.80024G>A | |
| NG_008218.2:g.20810C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.3218C>T | ENSP00000516154.1:p.Pro1073Leu | |
| ENST00000268124.11:c.3218C>T MANE Select | ENSP00000268124.5:p.Pro1073Leu | |
| ENST00000530292.3:c.2819C>T | ENSP00000432885.2:p.Pro940Leu | |
| ENST00000635986.2:c.*288C>T | ENSP00000490653.2:n.*288C>T | |
| ENST00000636774.1:c.*1785C>T | ENSP00000489799.1:n.*1785C>T | |
| ENST00000637238.1:c.2027C>T | ENSP00000490756.1:n.2027C>T | |
| ENST00000637264.1:c.2290C>T | ||
| ENST00000666746.1:c.2795C>T | ||
| ENST00000672071.1:n.3416C>T | ||
| ENST00000672695.1:n.395C>T | ||
| ENST00000672923.2:n.3218C>T | ||
| ENST00000268124.9:c.3218C>T | ENSP00000268124.5:p.Pro1073Leu | |
| ENST00000442287.6:c.3218C>T | ENSP00000399851.2:p.Pro1073Leu | |
| ENST00000530292.2:c.302C>T | ENSP00000432885.1:p.Pro101Leu | |
| ENST00000631044.2:c.*2642C>T | ENSP00000486730.1:n.*2642C>T | |
| NM_001126131.1:c.3218C>T | NP_001119603.1:p.Pro1073Leu | |
| NM_002693.2:c.3218C>T | NP_002684.1:p.Pro1073Leu | |
| NM_001126131.2:c.3218C>T | NP_001119603.1:p.Pro1073Leu | |
| NM_002693.3:c.3218C>T MANE Select | NP_002684.1:p.Pro1073Leu |