Linked Data
ClinVar Variation Id:
1594057
ClinVar RCV Id:
RCV002105415
dbSNP Id:
rs111516567
ExAC:
2:113890361 G / A
gnomAD v2:
2-113890361-G-A
gnomAD v3:
2-113132784-G-A
gnomAD v4:
2-113132784-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113132784G>A , CM000664.2:g.113132784G>A | GRCh38 |
| NC_000002.11:g.113890361G>A , CM000664.1:g.113890361G>A | GRCh37 |
| NC_000002.10:g.113606832G>A | NCBI36 |
| NG_021240.1:g.19892G>A , LRG_188:g.19892G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.345G>A | ENSP00000387210.1:p.Ala115= | |
| ENST00000696879.1:c.345G>A | ENSP00000512947.1:p.Ala115= | |
| ENST00000696880.1:c.345G>A | ENSP00000512948.1:p.Ala115= | |
| ENST00000696881.1:c.345G>A | ENSP00000512949.1:p.Ala115= | |
| ENST00000696882.1:c.*217G>A | ENSP00000512950.1:n.*217G>A | |
| ENST00000696883.1:n.392G>A | ||
| ENST00000409930.4:c.447G>A MANE Select | ENSP00000387173.3:p.Ala149= | |
| ENST00000259206.9:c.456G>A | ENSP00000259206.5:p.Ala152= | |
| ENST00000354115.6:c.393G>A | ENSP00000329072.3:p.Ala131= | |
| ENST00000361779.7:c.345G>A | ENSP00000354816.3:p.Ala115= | |
| ENST00000409052.5:c.345G>A | ENSP00000387210.1:p.Ala115= | |
| ENST00000409930.3:c.447G>A | ENSP00000387173.3:p.Ala149= | |
| NM_000577.4:c.393G>A | NP_000568.1:p.Ala131= | |
| NM_173841.2:c.456G>A , LRG_188t1:c.456G>A | NP_776213.1:p.Ala152= | |
| NM_173842.2:c.447G>A | NP_776214.1:p.Ala149= | |
| NM_173843.2:c.345G>A | NP_776215.1:p.Ala115= | |
| XM_005263661.3:c.345G>A | XP_005263718.1:p.Ala115= | |
| XM_006712497.2:c.345G>A | XP_006712560.1:p.Ala115= | |
| XM_011511121.1:c.345G>A | XP_011509423.1:p.Ala115= | |
| NM_001318914.1:c.345G>A | NP_001305843.1:p.Ala115= | |
| XM_005263661.4:c.345G>A | XP_005263718.1:p.Ala115= | |
| NM_000577.5:c.393G>A | NP_000568.1:p.Ala131= | |
| NM_001318914.2:c.345G>A | NP_001305843.1:p.Ala115= | |
| NM_173842.3:c.447G>A MANE Select | NP_776214.1:p.Ala149= | |
| NM_173843.3:c.345G>A | NP_776215.1:p.Ala115= | |
| NM_001379360.1:c.345G>A | NP_001366289.1:p.Ala115= | |
| NM_173841.3:c.456G>A | NP_776213.1:p.Ala152= |