Linked Data
ClinVar Variation Id:
96161
dbSNP Id:
rs398124408
ExAC:
9:140729356 A / C
gnomAD v2:
9-140729356-A-C
gnomAD v3:
9-137834904-A-C
gnomAD v4:
9-137834904-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137834904A>C , CM000671.2:g.137834904A>C | GRCh38 |
| NC_000009.11:g.140729356A>C , CM000671.1:g.140729356A>C | GRCh37 |
| NC_000009.10:g.139849177A>C | NCBI36 |
| NG_011776.1:g.220913A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3848A>C MANE Select | ENSP00000417980.1:p.Glu1283Ala | |
| ENST00000637161.1:c.3755A>C | ENSP00000490328.1:p.Glu1252Ala | |
| ENST00000637748.1:n.829A>C | ||
| ENST00000637891.1:c.1922A>C | ENSP00000490907.1:n.1922A>C | |
| ENST00000460843.5:c.3848A>C | ENSP00000417980.1:p.Glu1283Ala | |
| ENST00000462942.3:c.2398-11656A>C | ENSP00000436107.1:n.2398-11656A>C | |
| ENST00000472849.1:n.620A>C | ||
| ENST00000475564.5:n.1572A>C | ||
| ENST00000475704.2:n.578A>C | ||
| ENST00000494249.5:n.1201A>C | ||
| NM_024757.4:c.3848A>C | NP_079033.4:p.Glu1283Ala | |
| XM_005266105.3:c.3839A>C | XP_005266162.1:p.Glu1280Ala | |
| XM_005266110.1:c.3755A>C | XP_005266167.1:p.Glu1252Ala | |
| XM_006717288.2:c.3830A>C | XP_006717351.1:p.Glu1277Ala | |
| XM_011519021.1:c.3857A>C | XP_011517323.1:p.Glu1286Ala | |
| XM_011519022.1:c.3854A>C | XP_011517324.1:p.Glu1285Ala | |
| XM_011519023.1:c.3836A>C | XP_011517325.1:p.Glu1279Ala | |
| XM_011519024.1:c.3779A>C | XP_011517326.1:p.Glu1260Ala | |
| XM_011519025.1:c.3755A>C | XP_011517327.1:p.Glu1252Ala | |
| XM_011519026.1:c.3713A>C | XP_011517328.1:p.Glu1238Ala | |
| XM_011519029.1:c.2279A>C | XP_011517331.1:p.Glu760Ala | |
| XM_011519030.1:c.1631A>C | XP_011517332.1:p.Glu544Ala | |
| XM_011519031.1:c.1418A>C | XP_011517333.1:p.Glu473Ala | |
| XM_011519032.1:c.1418A>C | XP_011517334.1:p.Glu473Ala | |
| XM_011519033.1:c.3692A>C | XP_011517335.1:p.Glu1231Ala | |
| NM_001354263.1:c.3827A>C | NP_001341192.1:p.Glu1276Ala | |
| XM_005266105.5:c.3839A>C | XP_005266162.1:p.Glu1280Ala | |
| XM_011519021.3:c.3857A>C | XP_011517323.1:p.Glu1286Ala | |
| XM_011519022.3:c.3854A>C | XP_011517324.1:p.Glu1285Ala | |
| XM_011519023.3:c.3836A>C | XP_011517325.1:p.Glu1279Ala | |
| XM_011519029.3:c.2279A>C | XP_011517331.1:p.Glu760Ala | |
| XM_011519030.3:c.1631A>C | XP_011517332.1:p.Glu544Ala | |
| XM_017015134.1:c.3833A>C | XP_016870623.1:p.Glu1278Ala | |
| XM_017015136.2:c.3749A>C | XP_016870625.1:p.Glu1250Ala | |
| XM_017015137.1:c.3734A>C | XP_016870626.1:p.Glu1245Ala | |
| XM_017015138.1:c.3734A>C | XP_016870627.1:p.Glu1245Ala | |
| XM_024447674.1:c.3677A>C | XP_024303442.1:p.Glu1226Ala | |
| XM_024447675.1:c.3611A>C | XP_024303443.1:p.Glu1204Ala | |
| XM_024447676.1:c.2972A>C | XP_024303444.1:p.Glu991Ala | |
| XM_024447677.1:c.2972A>C | XP_024303445.1:p.Glu991Ala | |
| XM_024447680.1:c.3590A>C | XP_024303448.1:p.Glu1197Ala | |
| NM_024757.5:c.3848A>C MANE Select | NP_079033.4:p.Glu1283Ala | |
| NM_001354263.2:c.3827A>C | NP_001341192.1:p.Glu1276Ala |