Linked Data
dbSNP Id:
rs780287194
ExAC:
3:9786750 A / G
gnomAD v2:
3-9786750-A-G
gnomAD v3:
3-9745066-A-G
gnomAD v4:
3-9745066-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9745066A>G , CM000665.2:g.9745066A>G | GRCh38 |
| NC_000003.11:g.9786750A>G , CM000665.1:g.9786750A>G | GRCh37 |
| NC_000003.10:g.9761750A>G | NCBI36 |
| NG_012106.1:g.123A>G | |
| NG_052955.1:g.18338A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424362.7:c.2976A>G | ENSP00000398863.2:p.Val992= | |
| ENST00000457855.2:c.2958A>G | ENSP00000410210.2:p.Val986= | |
| ENST00000497565.3:n.1598A>G | ||
| ENST00000672126.2:c.*593A>G | ENSP00000500718.1:n.*593A>G | |
| ENST00000672515.2:c.2976A>G | ENSP00000499951.2:p.Val992= | |
| ENST00000673551.2:c.*1102A>G | ENSP00000500672.1:n.*1102A>G | |
| ENST00000682208.1:c.2958A>G | ENSP00000508123.1:p.Val986= | |
| ENST00000682980.1:c.2691A>G | ENSP00000508198.1:p.Val897= | |
| ENST00000683423.1:c.*466A>G | ENSP00000507659.1:n.*466A>G | |
| ENST00000683639.1:c.2961A>G | ENSP00000506903.1:p.Val987= | |
| ENST00000683743.1:c.2961A>G | ENSP00000507469.1:p.Val987= | |
| ENST00000684199.1:c.2979A>G | ENSP00000506921.1:p.Val993= | |
| ENST00000684206.1:c.2673A>G | ENSP00000507148.1:p.Val891= | |
| ENST00000684333.1:c.2958A>G | ENSP00000508256.1:p.Val986= | |
| ENST00000684573.1:c.698A>G | ||
| ENST00000684608.1:c.*1105A>G | ENSP00000507969.1:n.*1105A>G | |
| ENST00000383829.7:c.2979A>G MANE Select | ENSP00000373340.2:p.Val993= | |
| ENST00000424362.6:c.2958A>G | ENSP00000398863.1:p.Val986= | |
| ENST00000497565.2:n.1598A>G | ||
| ENST00000672126.1:c.2894A>G | ENSP00000500718.1:n.2894A>G | |
| ENST00000672515.1:c.2953A>G | ||
| ENST00000673551.1:c.*1102A>G | ENSP00000500672.1:n.*1102A>G | |
| ENST00000383829.6:c.2979A>G | ENSP00000373340.2:p.Val993= | |
| ENST00000424362.5:c.2958A>G | ENSP00000398863.1:p.Val986= | |
| ENST00000433861.6:c.2676A>G | ENSP00000402485.2:p.Val892= | |
| ENST00000457855.1:c.2961A>G | ENSP00000410210.1:p.Val987= | |
| ENST00000497565.1:n.23A>G | ||
| NM_001003694.1:c.2979A>G | NP_001003694.1:p.Val993= | |
| NM_004634.2:c.2961A>G | NP_004625.2:p.Val987= | |
| XM_005265449.1:c.2958A>G | XP_005265506.1:p.Val986= | |
| XM_005265450.1:c.2976A>G | XP_005265507.1:p.Val992= | |
| XM_005265451.1:c.2958A>G | XP_005265508.1:p.Val986= | |
| XM_005265452.1:c.2694A>G | XP_005265509.1:p.Val898= | |
| XM_005265453.1:c.2676A>G | XP_005265510.1:p.Val892= | |
| XM_011534101.1:c.2961A>G | XP_011532403.1:p.Val987= | |
| XM_011534102.1:c.2961A>G | XP_011532404.1:p.Val987= | |
| NM_001319049.1:c.2676A>G | NP_001305978.1:p.Val892= | |
| NM_001319050.1:c.2958A>G | NP_001305979.1:p.Val986= | |
| XM_024453741.1:c.2979A>G | XP_024309509.1:p.Val993= | |
| XM_024453742.1:c.2979A>G | XP_024309510.1:p.Val993= | |
| XM_024453743.1:c.2976A>G | XP_024309511.1:p.Val992= | |
| XM_024453744.1:c.2694A>G | XP_024309512.1:p.Val898= | |
| XR_001740257.1:n.3314A>G | ||
| XR_001740258.1:n.3568A>G | ||
| NM_001003694.2:c.2979A>G MANE Select | NP_001003694.1:p.Val993= | |
| NR_160918.1:n.3562A>G | ||
| NM_001319049.2:c.2676A>G | NP_001305978.1:p.Val892= | |
| NM_001319050.2:c.2958A>G | NP_001305979.1:p.Val986= | |
| NM_004634.3:c.2961A>G | NP_004625.2:p.Val987= |