Linked Data
ClinVar Variation Id:
5353
ClinVar RCV Id:
RCV000005682
dbSNP Id:
rs28939078
ExAC:
3:43759167 G / A
gnomAD v2:
3-43759167-G-A
gnomAD v4:
3-43717675-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43717675G>A , CM000665.2:g.43717675G>A | GRCh38 |
| NC_000003.11:g.43759167G>A , CM000665.1:g.43759167G>A | GRCh37 |
| NC_000003.10:g.43734171G>A | NCBI36 |
| NG_007090.3:g.31793G>A | |
| NG_007090.5:g.31806G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413300.2:c.268-91G>A | ||
| ENST00000454293.2:c.655G>A | ENSP00000412014.2:p.Glu219Lys | |
| ENST00000458276.7:c.774-768G>A | ENSP00000390849.3:n.774-768G>A | |
| ENST00000463153.2:c.5G>A | ||
| ENST00000642351.1:c.655G>A | ENSP00000494478.1:p.Glu219Lys | |
| ENST00000643140.1:c.*140G>A | ENSP00000495588.1:n.*140G>A | |
| ENST00000643477.1:c.*239G>A | ENSP00000496220.1:n.*239G>A | |
| ENST00000643500.1:c.666G>A | ENSP00000494735.1:p.Val222= | |
| ENST00000643520.1:n.944G>A | ||
| ENST00000644371.2:c.778G>A MANE Select | ENSP00000495778.1:p.Glu260Lys | |
| ENST00000646378.1:c.*828G>A | ENSP00000495826.1:n.*828G>A | |
| ENST00000646799.1:c.*248-768G>A | ENSP00000494829.1:n.*248-768G>A | |
| ENST00000649763.1:c.778G>A | ENSP00000497701.1:p.Glu260Lys | |
| ENST00000413300.1:c.270-91G>A | ENSP00000392159.1:n.270-91G>A | |
| ENST00000458276.6:c.778G>A | ENSP00000390849.2:p.Glu260Lys | |
| ENST00000463153.1:n.8G>A | ||
| NM_016006.4:c.778G>A | NP_057090.2:p.Glu260Lys | |
| XM_011533779.1:c.655G>A | XP_011532081.1:p.Glu219Lys | |
| XM_011533780.1:c.774-768G>A | XP_011532082.1:n.774-768G>A | |
| XR_940447.1:n.723G>A | ||
| NM_001355186.1:c.778G>A | NP_001342115.1:p.Glu260Lys | |
| NM_001365649.1:c.655G>A | NP_001352578.1:p.Glu219Lys | |
| NM_001365650.1:c.774-768G>A | NP_001352579.1:n.774-768G>A | |
| NM_016006.5:c.778G>A | NP_057090.2:p.Glu260Lys | |
| NR_158560.1:n.789G>A | ||
| NM_001355186.2:c.778G>A | NP_001342115.1:p.Glu260Lys | |
| NM_016006.6:c.778G>A MANE Select | NP_057090.2:p.Glu260Lys |