Linked Data
ClinVar Variation Id:
196788
dbSNP Id:
rs147318592
ExAC:
1:10403302 G / A
gnomAD v2:
1-10403302-G-A
gnomAD v3:
1-10343244-G-A
gnomAD v4:
1-10343244-G-A
COSMIC:
COSM1600456
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10343244G>A , CM000663.2:g.10343244G>A | GRCh38 |
| NC_000001.10:g.10403302G>A , CM000663.1:g.10403302G>A | GRCh37 |
| NC_000001.9:g.10325889G>A | NCBI36 |
| NG_008069.1:g.137539G>A , LRG_252:g.137539G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.3507G>A | ENSP00000512668.1:p.Pro1169= | |
| ENST00000696503.1:c.3570G>A | ENSP00000512669.1:p.Pro1190= | |
| ENST00000696504.1:c.3570G>A | ENSP00000512670.1:p.Pro1190= | |
| ENST00000676179.1:c.3645G>A MANE Select | ENSP00000502065.1:p.Pro1215= | |
| ENST00000263934.10:c.3507G>A | ENSP00000263934.6:p.Pro1169= | |
| ENST00000377081.5:c.3645G>A | ENSP00000366284.1:p.Pro1215= | |
| ENST00000377086.5:c.3645G>A | ENSP00000366290.1:p.Pro1215= | |
| ENST00000620295.2:c.3603G>A | ENSP00000478500.1:p.Pro1201= | |
| ENST00000622724.3:c.3567G>A | ENSP00000480063.1:p.Pro1189= | |
| NM_015074.3:c.3507G>A , LRG_252t1:c.3507G>A | NP_055889.2:p.Pro1169= | |
| NM_001365951.1:c.3645G>A | NP_001352880.1:p.Pro1215= | |
| NM_001365952.1:c.3645G>A | NP_001352881.1:p.Pro1215= | |
| NM_001365951.3:c.3645G>A MANE Select | NP_001352880.1:p.Pro1215= |