Linked Data
ClinVar Variation Id:
1404264
ClinVar RCV Id:
RCV001901561
dbSNP Id:
rs557951372
ExAC:
3:48605159 C / A
gnomAD v2:
3-48605159-C-A
gnomAD v3:
3-48567726-C-A
gnomAD v4:
3-48567726-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48567726C>A , CM000665.2:g.48567726C>A | GRCh38 |
| NC_000003.11:g.48605159C>A , CM000665.1:g.48605159C>A | GRCh37 |
| NC_000003.10:g.48580163C>A | NCBI36 |
| NG_007065.1:g.32527G>T , LRG_286:g.32527G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7967G>T MANE Select | ENSP00000506558.1:p.Gly2656Val | |
| ENST00000328333.12:c.7967G>T | ENSP00000332371.8:p.Gly2656Val | |
| ENST00000459756.5:n.790G>T | ||
| ENST00000487017.5:n.4606G>T | ||
| NM_000094.3:c.7967G>T , LRG_286t1:c.7967G>T | NP_000085.1:p.Gly2656Val | |
| XM_011533336.1:c.7994G>T | XP_011531638.1:p.Gly2665Val | |
| XM_011533337.1:c.7967G>T | XP_011531639.1:p.Gly2656Val | |
| XM_011533338.1:c.7934G>T | XP_011531640.1:p.Gly2645Val | |
| XR_940369.1:n.8030G>T | ||
| XR_940370.1:n.8030G>T | ||
| XR_940371.1:n.8030G>T | ||
| XM_017005688.1:c.7907G>T | XP_016861177.1:p.Gly2636Val | |
| XR_001740003.1:n.8003G>T | ||
| XR_001740004.1:n.8003G>T | ||
| XR_001740005.1:n.8003G>T | ||
| NM_000094.4:c.7967G>T MANE Select | NP_000085.1:p.Gly2656Val |