Linked Data
ClinVar Variation Id:
764509
dbSNP Id:
rs769665688
ExAC:
2:215645440 T / C
gnomAD v2:
2-215645440-T-C
gnomAD v4:
2-214780716-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214780716T>C , CM000664.2:g.214780716T>C | GRCh38 |
| NC_000002.11:g.215645440T>C , CM000664.1:g.215645440T>C | GRCh37 |
| NC_000002.10:g.215353685T>C | NCBI36 |
| NG_012047.2:g.33989A>G | |
| NG_012047.3:g.33996A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1158A>G MANE Select | ENSP00000260947.4:p.Glu386= | |
| ENST00000421162.2:c.215+16345A>G | ENSP00000392245.2:n.215+16345A>G | |
| ENST00000613192.2:c.158+28696A>G | ENSP00000483275.2:n.158+28696A>G | |
| ENST00000613374.5:c.159-28161A>G | ENSP00000484464.1:n.159-28161A>G | |
| ENST00000613706.5:c.906+252A>G | ENSP00000484976.2:n.906+252A>G | |
| ENST00000617164.5:c.1101A>G | ENSP00000480470.1:p.Glu367= | |
| ENST00000619009.5:c.364+11581A>G | ENSP00000482293.1:n.364+11581A>G | |
| ENST00000650978.1:c.1000A>G | ||
| ENST00000260947.8:c.1158A>G | ENSP00000260947.4:p.Glu386= | |
| ENST00000421162.1:c.215+16345A>G | ENSP00000392245.1:n.215+16345A>G | |
| ENST00000455743.5:c.*778A>G | ENSP00000412186.1:n.*778A>G | |
| ENST00000613192.1:c.73+28696A>G | ENSP00000483275.1:n.73+28696A>G | |
| ENST00000613374.4:c.159-28161A>G | ENSP00000484464.1:n.159-28161A>G | |
| ENST00000613706.4:c.215+16345A>G | ENSP00000484976.1:n.215+16345A>G | |
| ENST00000617164.4:c.1101A>G | ENSP00000480470.1:p.Glu367= | |
| ENST00000619009.4:c.364+11581A>G | ENSP00000482293.1:n.364+11581A>G | |
| ENST00000620057.4:c.365-11404A>G | ENSP00000481988.1:n.365-11404A>G | |
| NM_000465.3:c.1158A>G | NP_000456.2:p.Glu386= | |
| NM_001282543.1:c.1101A>G | NP_001269472.1:p.Glu367= | |
| NM_001282545.1:c.215+16345A>G | NP_001269474.1:n.215+16345A>G | |
| NM_001282548.1:c.159-28161A>G | NP_001269477.1:n.159-28161A>G | |
| NM_001282549.1:c.364+11581A>G | NP_001269478.1:n.364+11581A>G | |
| NR_104212.1:n.1151A>G | ||
| NR_104215.1:n.1094A>G | ||
| NR_104216.1:n.507-11404A>G | ||
| XM_011511567.1:c.1104A>G | XP_011509869.1:p.Glu368= | |
| XM_011511568.1:c.1158A>G | XP_011509870.1:p.Glu386= | |
| XM_017004613.1:c.1257A>G | XP_016860102.1:p.Glu419= | |
| XM_017004614.1:c.1257A>G | XP_016860103.1:p.Glu419= | |
| XR_002959322.1:n.1348A>G | ||
| NM_000465.4:c.1158A>G MANE Select | NP_000456.2:p.Glu386= | |
| NM_001282543.2:c.1101A>G | NP_001269472.1:p.Glu367= | |
| NM_001282545.2:c.215+16345A>G | NP_001269474.1:n.215+16345A>G | |
| NM_001282548.2:c.159-28161A>G | NP_001269477.1:n.159-28161A>G | |
| NM_001282549.2:c.364+11581A>G | NP_001269478.1:n.364+11581A>G | |
| NR_104212.2:n.1123A>G | ||
| NR_104215.2:n.1066A>G | ||
| NR_104216.2:n.479-11404A>G |