Linked Data
ClinVar Variation Id:
2973795
ClinVar RCV Id:
RCV003833369
dbSNP Id:
rs779310675
ExAC:
4:187205349 A / G
gnomAD v2:
4-187205349-A-G
gnomAD v4:
4-186284195-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284195A>G , CM000666.2:g.186284195A>G | GRCh38 |
| NC_000004.11:g.187205349A>G , CM000666.1:g.187205349A>G | GRCh37 |
| NC_000004.10:g.187442343A>G | NCBI36 |
| NG_008051.1:g.23232A>G , LRG_583:g.23232A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1239A>G MANE Select | ENSP00000384957.2:p.Arg413= | |
| ENST00000264692.8:c.1077A>G | ENSP00000264692.5:p.Arg359= | |
| ENST00000403665.6:c.1239A>G | ENSP00000384957.2:p.Arg413= | |
| NM_000128.3:c.1239A>G , LRG_583t1:c.1239A>G | NP_000119.1:p.Arg413= | |
| XM_005262821.2:c.1242A>G | XP_005262878.1:p.Arg414= | |
| XM_005262822.2:c.1242A>G | XP_005262879.1:p.Arg414= | |
| XM_005262823.2:c.972A>G | XP_005262880.1:p.Arg324= | |
| XM_005262824.1:c.1242A>G | XP_005262881.1:p.Arg414= | |
| XM_006714137.1:c.1194A>G | XP_006714200.1:p.Arg398= | |
| XR_938706.1:n.1647A>G | ||
| XR_938707.1:n.1647A>G | ||
| XM_005262821.4:c.1242A>G | XP_005262878.1:p.Arg414= | |
| XM_005262822.4:c.1242A>G | XP_005262879.1:p.Arg414= | |
| XM_005262823.4:c.972A>G | XP_005262880.1:p.Arg324= | |
| XM_006714137.3:c.1194A>G | XP_006714200.1:p.Arg398= | |
| XR_001741172.2:n.1713A>G | ||
| NM_000128.4:c.1239A>G MANE Select | NP_000119.1:p.Arg413= |