Linked Data
ClinVar Variation Id:
345794
dbSNP Id:
rs374365287
ExAC:
3:48604117 T / C
gnomAD v2:
3-48604117-T-C
gnomAD v3:
3-48566684-T-C
gnomAD v4:
3-48566684-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48566684T>C , CM000665.2:g.48566684T>C | GRCh38 |
| NC_000003.11:g.48604117T>C , CM000665.1:g.48604117T>C | GRCh37 |
| NC_000003.10:g.48579121T>C | NCBI36 |
| NG_007065.1:g.33569A>G , LRG_286:g.33569A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681320.1:c.8280A>G MANE Select | ENSP00000506558.1:p.Gly2760= | |
| ENST00000328333.12:c.8280A>G | ENSP00000332371.8:p.Gly2760= | |
| ENST00000474432.1:n.680A>G | ||
| ENST00000487017.5:n.4919A>G | ||
| NM_000094.3:c.8280A>G , LRG_286t1:c.8280A>G | NP_000085.1:p.Gly2760= | |
| XM_011533336.1:c.8307A>G | XP_011531638.1:p.Gly2769= | |
| XM_011533337.1:c.8280A>G | XP_011531639.1:p.Gly2760= | |
| XM_011533338.1:c.8247A>G | XP_011531640.1:p.Gly2749= | |
| XR_940369.1:n.8343A>G | ||
| XR_940370.1:n.8343A>G | ||
| XR_940371.1:n.8343A>G | ||
| XM_017005688.1:c.8220A>G | XP_016861177.1:p.Gly2740= | |
| XR_001740003.1:n.8316A>G | ||
| XR_001740004.1:n.8316A>G | ||
| XR_001740005.1:n.8316A>G | ||
| NM_000094.4:c.8280A>G MANE Select | NP_000085.1:p.Gly2760= |