Linked Data
ClinVar Variation Id:
96150
dbSNP Id:
rs377070695
ExAC:
9:140695429 G / A
gnomAD v2:
9-140695429-G-A
gnomAD v3:
9-137800977-G-A
gnomAD v4:
9-137800977-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137800977G>A , CM000671.2:g.137800977G>A | GRCh38 |
| NC_000009.11:g.140695429G>A , CM000671.1:g.140695429G>A | GRCh37 |
| NC_000009.10:g.139815250G>A | NCBI36 |
| NG_011776.1:g.186986G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2705G>A MANE Select | ENSP00000417980.1:p.Arg902Gln | |
| ENST00000636027.1:c.2591G>A | ENSP00000489961.1:p.Arg864Gln | |
| ENST00000637161.1:c.2612G>A | ENSP00000490328.1:p.Arg871Gln | |
| ENST00000637261.1:c.2745G>A | ENSP00000490815.1:n.2745G>A | |
| ENST00000637891.1:c.599G>A | ENSP00000490907.1:p.Arg200Gln | |
| ENST00000637949.1:c.383G>A | ENSP00000489786.1:p.Arg128Gln | |
| ENST00000460843.5:c.2705G>A | ENSP00000417980.1:p.Arg902Gln | |
| ENST00000462942.3:c.1562G>A | ENSP00000436107.1:p.Arg521Gln | |
| ENST00000482340.5:c.275G>A | ENSP00000486748.1:p.Arg92Gln | |
| ENST00000486164.5:c.283G>A | ||
| ENST00000488242.2:n.231G>A | ||
| ENST00000493484.5:c.275G>A | ENSP00000486503.1:p.Arg92Gln | |
| NM_024757.4:c.2705G>A | NP_079033.4:p.Arg902Gln | |
| XM_005266105.3:c.2696G>A | XP_005266162.1:p.Arg899Gln | |
| XM_005266110.1:c.2612G>A | XP_005266167.1:p.Arg871Gln | |
| XM_006717288.2:c.2687G>A | XP_006717351.1:p.Arg896Gln | |
| XM_011519021.1:c.2714G>A | XP_011517323.1:p.Arg905Gln | |
| XM_011519022.1:c.2711G>A | XP_011517324.1:p.Arg904Gln | |
| XM_011519023.1:c.2693G>A | XP_011517325.1:p.Arg898Gln | |
| XM_011519024.1:c.2636G>A | XP_011517326.1:p.Arg879Gln | |
| XM_011519025.1:c.2612G>A | XP_011517327.1:p.Arg871Gln | |
| XM_011519026.1:c.2570G>A | XP_011517328.1:p.Arg857Gln | |
| XM_011519027.1:c.2714G>A | XP_011517329.1:p.Arg905Gln | |
| XM_011519029.1:c.1136G>A | XP_011517331.1:p.Arg379Gln | |
| XM_011519030.1:c.488G>A | XP_011517332.1:p.Arg163Gln | |
| XM_011519031.1:c.275G>A | XP_011517333.1:p.Arg92Gln | |
| XM_011519032.1:c.275G>A | XP_011517334.1:p.Arg92Gln | |
| XM_011519033.1:c.2549G>A | XP_011517335.1:p.Arg850Gln | |
| NM_001354263.1:c.2684G>A | NP_001341192.1:p.Arg895Gln | |
| XM_005266105.5:c.2696G>A | XP_005266162.1:p.Arg899Gln | |
| XM_011519021.3:c.2714G>A | XP_011517323.1:p.Arg905Gln | |
| XM_011519022.3:c.2711G>A | XP_011517324.1:p.Arg904Gln | |
| XM_011519023.3:c.2693G>A | XP_011517325.1:p.Arg898Gln | |
| XM_011519029.3:c.1136G>A | XP_011517331.1:p.Arg379Gln | |
| XM_011519030.3:c.488G>A | XP_011517332.1:p.Arg163Gln | |
| XM_017015134.1:c.2690G>A | XP_016870623.1:p.Arg897Gln | |
| XM_017015136.2:c.2606G>A | XP_016870625.1:p.Arg869Gln | |
| XM_017015137.1:c.2591G>A | XP_016870626.1:p.Arg864Gln | |
| XM_017015138.1:c.2591G>A | XP_016870627.1:p.Arg864Gln | |
| XM_024447674.1:c.2534G>A | XP_024303442.1:p.Arg845Gln | |
| XM_024447675.1:c.2468G>A | XP_024303443.1:p.Arg823Gln | |
| XM_024447676.1:c.1829G>A | XP_024303444.1:p.Arg610Gln | |
| XM_024447677.1:c.1829G>A | XP_024303445.1:p.Arg610Gln | |
| XM_024447678.1:c.2612G>A | XP_024303446.1:p.Arg871Gln | |
| XM_024447680.1:c.2447G>A | XP_024303448.1:p.Arg816Gln | |
| NM_024757.5:c.2705G>A MANE Select | NP_079033.4:p.Arg902Gln | |
| NM_001354263.2:c.2684G>A | NP_001341192.1:p.Arg895Gln |