Linked Data
ClinVar Variation Id:
96156
dbSNP Id:
rs373174786
ExAC:
9:140711917 G / A
gnomAD v2:
9-140711917-G-A
gnomAD v3:
9-137817465-G-A
gnomAD v4:
9-137817465-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137817465G>A , CM000671.2:g.137817465G>A | GRCh38 |
| NC_000009.11:g.140711917G>A , CM000671.1:g.140711917G>A | GRCh37 |
| NC_000009.10:g.139831738G>A | NCBI36 |
| NG_011776.1:g.203474G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3401G>A MANE Select | ENSP00000417980.1:p.Arg1134Gln | |
| ENST00000637161.1:c.3308G>A | ENSP00000490328.1:p.Arg1103Gln | |
| ENST00000637261.1:c.3441G>A | ENSP00000490815.1:n.3441G>A | |
| ENST00000637748.1:n.382G>A | ||
| ENST00000637784.1:n.54G>A | ||
| ENST00000637891.1:c.1475G>A | ENSP00000490907.1:n.1475G>A | |
| ENST00000460843.5:c.3401G>A | ENSP00000417980.1:p.Arg1134Gln | |
| ENST00000462942.3:c.2258G>A | ENSP00000436107.1:p.Arg753Gln | |
| ENST00000475564.5:n.1125G>A | ||
| ENST00000494249.5:n.754G>A | ||
| NM_024757.4:c.3401G>A | NP_079033.4:p.Arg1134Gln | |
| XM_005266105.3:c.3392G>A | XP_005266162.1:p.Arg1131Gln | |
| XM_005266110.1:c.3308G>A | XP_005266167.1:p.Arg1103Gln | |
| XM_006717288.2:c.3383G>A | XP_006717351.1:p.Arg1128Gln | |
| XM_011519021.1:c.3410G>A | XP_011517323.1:p.Arg1137Gln | |
| XM_011519022.1:c.3407G>A | XP_011517324.1:p.Arg1136Gln | |
| XM_011519023.1:c.3389G>A | XP_011517325.1:p.Arg1130Gln | |
| XM_011519024.1:c.3332G>A | XP_011517326.1:p.Arg1111Gln | |
| XM_011519025.1:c.3308G>A | XP_011517327.1:p.Arg1103Gln | |
| XM_011519026.1:c.3266G>A | XP_011517328.1:p.Arg1089Gln | |
| XM_011519029.1:c.1832G>A | XP_011517331.1:p.Arg611Gln | |
| XM_011519030.1:c.1184G>A | XP_011517332.1:p.Arg395Gln | |
| XM_011519031.1:c.971G>A | XP_011517333.1:p.Arg324Gln | |
| XM_011519032.1:c.971G>A | XP_011517334.1:p.Arg324Gln | |
| XM_011519033.1:c.3245G>A | XP_011517335.1:p.Arg1082Gln | |
| XR_930459.1:n.5297-2903C>T | ||
| NM_001354263.1:c.3380G>A | NP_001341192.1:p.Arg1127Gln | |
| XM_005266105.5:c.3392G>A | XP_005266162.1:p.Arg1131Gln | |
| XM_011519021.3:c.3410G>A | XP_011517323.1:p.Arg1137Gln | |
| XM_011519022.3:c.3407G>A | XP_011517324.1:p.Arg1136Gln | |
| XM_011519023.3:c.3389G>A | XP_011517325.1:p.Arg1130Gln | |
| XM_011519029.3:c.1832G>A | XP_011517331.1:p.Arg611Gln | |
| XM_011519030.3:c.1184G>A | XP_011517332.1:p.Arg395Gln | |
| XM_017015134.1:c.3386G>A | XP_016870623.1:p.Arg1129Gln | |
| XM_017015136.2:c.3302G>A | XP_016870625.1:p.Arg1101Gln | |
| XM_017015137.1:c.3287G>A | XP_016870626.1:p.Arg1096Gln | |
| XM_017015138.1:c.3287G>A | XP_016870627.1:p.Arg1096Gln | |
| XM_024447674.1:c.3230G>A | XP_024303442.1:p.Arg1077Gln | |
| XM_024447675.1:c.3164G>A | XP_024303443.1:p.Arg1055Gln | |
| XM_024447676.1:c.2525G>A | XP_024303444.1:p.Arg842Gln | |
| XM_024447677.1:c.2525G>A | XP_024303445.1:p.Arg842Gln | |
| XM_024447680.1:c.3143G>A | XP_024303448.1:p.Arg1048Gln | |
| NM_024757.5:c.3401G>A MANE Select | NP_079033.4:p.Arg1134Gln | |
| NM_001354263.2:c.3380G>A | NP_001341192.1:p.Arg1127Gln |