Linked Data
ClinVar Variation Id:
767448
dbSNP Id:
rs141891925
ExAC:
9:140707535 A / G
gnomAD v2:
9-140707535-A-G
gnomAD v3:
9-137813083-A-G
gnomAD v4:
9-137813083-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137813083A>G , CM000671.2:g.137813083A>G | GRCh38 |
| NC_000009.11:g.140707535A>G , CM000671.1:g.140707535A>G | GRCh37 |
| NC_000009.10:g.139827356A>G | NCBI36 |
| NG_011776.1:g.199092A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2945A>G MANE Select | ENSP00000417980.1:p.Asn982Ser | |
| ENST00000636027.1:c.2831A>G | ENSP00000489961.1:p.Asn944Ser | |
| ENST00000637161.1:c.2852A>G | ENSP00000490328.1:p.Asn951Ser | |
| ENST00000637261.1:c.2985A>G | ENSP00000490815.1:n.2985A>G | |
| ENST00000637891.1:c.839A>G | ENSP00000490907.1:p.Asn280Ser | |
| ENST00000460843.5:c.2945A>G | ENSP00000417980.1:p.Asn982Ser | |
| ENST00000462942.3:c.1802A>G | ENSP00000436107.1:p.Asn601Ser | |
| ENST00000486164.5:c.632A>G | ||
| ENST00000488242.2:n.471A>G | ||
| NM_024757.4:c.2945A>G | NP_079033.4:p.Asn982Ser | |
| XM_005266105.3:c.2936A>G | XP_005266162.1:p.Asn979Ser | |
| XM_005266110.1:c.2852A>G | XP_005266167.1:p.Asn951Ser | |
| XM_006717288.2:c.2927A>G | XP_006717351.1:p.Asn976Ser | |
| XM_011519021.1:c.2954A>G | XP_011517323.1:p.Asn985Ser | |
| XM_011519022.1:c.2951A>G | XP_011517324.1:p.Asn984Ser | |
| XM_011519023.1:c.2933A>G | XP_011517325.1:p.Asn978Ser | |
| XM_011519024.1:c.2876A>G | XP_011517326.1:p.Asn959Ser | |
| XM_011519025.1:c.2852A>G | XP_011517327.1:p.Asn951Ser | |
| XM_011519026.1:c.2810A>G | XP_011517328.1:p.Asn937Ser | |
| XM_011519029.1:c.1376A>G | XP_011517331.1:p.Asn459Ser | |
| XM_011519030.1:c.728A>G | XP_011517332.1:p.Asn243Ser | |
| XM_011519031.1:c.515A>G | XP_011517333.1:p.Asn172Ser | |
| XM_011519032.1:c.515A>G | XP_011517334.1:p.Asn172Ser | |
| XM_011519033.1:c.2789A>G | XP_011517335.1:p.Asn930Ser | |
| NM_001354263.1:c.2924A>G | NP_001341192.1:p.Asn975Ser | |
| XM_005266105.5:c.2936A>G | XP_005266162.1:p.Asn979Ser | |
| XM_011519021.3:c.2954A>G | XP_011517323.1:p.Asn985Ser | |
| XM_011519022.3:c.2951A>G | XP_011517324.1:p.Asn984Ser | |
| XM_011519023.3:c.2933A>G | XP_011517325.1:p.Asn978Ser | |
| XM_011519029.3:c.1376A>G | XP_011517331.1:p.Asn459Ser | |
| XM_011519030.3:c.728A>G | XP_011517332.1:p.Asn243Ser | |
| XM_017015134.1:c.2930A>G | XP_016870623.1:p.Asn977Ser | |
| XM_017015136.2:c.2846A>G | XP_016870625.1:p.Asn949Ser | |
| XM_017015137.1:c.2831A>G | XP_016870626.1:p.Asn944Ser | |
| XM_017015138.1:c.2831A>G | XP_016870627.1:p.Asn944Ser | |
| XM_024447674.1:c.2774A>G | XP_024303442.1:p.Asn925Ser | |
| XM_024447675.1:c.2708A>G | XP_024303443.1:p.Asn903Ser | |
| XM_024447676.1:c.2069A>G | XP_024303444.1:p.Asn690Ser | |
| XM_024447677.1:c.2069A>G | XP_024303445.1:p.Asn690Ser | |
| XM_024447680.1:c.2687A>G | XP_024303448.1:p.Asn896Ser | |
| NM_024757.5:c.2945A>G MANE Select | NP_079033.4:p.Asn982Ser | |
| NM_001354263.2:c.2924A>G | NP_001341192.1:p.Asn975Ser |