Linked Data
ClinVar Variation Id:
210926
dbSNP Id:
rs367688971
ExAC:
9:140708900 C / T
gnomAD v2:
9-140708900-C-T
gnomAD v3:
9-137814448-C-T
gnomAD v4:
9-137814448-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137814448C>T , CM000671.2:g.137814448C>T | GRCh38 |
| NC_000009.11:g.140708900C>T , CM000671.1:g.140708900C>T | GRCh37 |
| NC_000009.10:g.139828721C>T | NCBI36 |
| NG_011776.1:g.200457C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3198C>T MANE Select | ENSP00000417980.1:p.Asp1066= | |
| ENST00000637161.1:c.3105C>T | ENSP00000490328.1:p.Asp1035= | |
| ENST00000637261.1:c.3238C>T | ENSP00000490815.1:n.3238C>T | |
| ENST00000637891.1:c.1272C>T | ENSP00000490907.1:n.1272C>T | |
| ENST00000460843.5:c.3198C>T | ENSP00000417980.1:p.Asp1066= | |
| ENST00000462942.3:c.2055C>T | ENSP00000436107.1:p.Asp685= | |
| ENST00000483653.1:n.58C>T | ||
| ENST00000488242.2:n.724C>T | ||
| NM_024757.4:c.3198C>T | NP_079033.4:p.Asp1066= | |
| XM_005266105.3:c.3189C>T | XP_005266162.1:p.Asp1063= | |
| XM_005266110.1:c.3105C>T | XP_005266167.1:p.Asp1035= | |
| XM_006717288.2:c.3180C>T | XP_006717351.1:p.Asp1060= | |
| XM_011519021.1:c.3207C>T | XP_011517323.1:p.Asp1069= | |
| XM_011519022.1:c.3204C>T | XP_011517324.1:p.Asp1068= | |
| XM_011519023.1:c.3186C>T | XP_011517325.1:p.Asp1062= | |
| XM_011519024.1:c.3129C>T | XP_011517326.1:p.Asp1043= | |
| XM_011519025.1:c.3105C>T | XP_011517327.1:p.Asp1035= | |
| XM_011519026.1:c.3063C>T | XP_011517328.1:p.Asp1021= | |
| XM_011519029.1:c.1629C>T | XP_011517331.1:p.Asp543= | |
| XM_011519030.1:c.981C>T | XP_011517332.1:p.Asp327= | |
| XM_011519031.1:c.768C>T | XP_011517333.1:p.Asp256= | |
| XM_011519032.1:c.768C>T | XP_011517334.1:p.Asp256= | |
| XM_011519033.1:c.3042C>T | XP_011517335.1:p.Asp1014= | |
| NM_001354263.1:c.3177C>T | NP_001341192.1:p.Asp1059= | |
| XM_005266105.5:c.3189C>T | XP_005266162.1:p.Asp1063= | |
| XM_011519021.3:c.3207C>T | XP_011517323.1:p.Asp1069= | |
| XM_011519022.3:c.3204C>T | XP_011517324.1:p.Asp1068= | |
| XM_011519023.3:c.3186C>T | XP_011517325.1:p.Asp1062= | |
| XM_011519029.3:c.1629C>T | XP_011517331.1:p.Asp543= | |
| XM_011519030.3:c.981C>T | XP_011517332.1:p.Asp327= | |
| XM_017015134.1:c.3183C>T | XP_016870623.1:p.Asp1061= | |
| XM_017015136.2:c.3099C>T | XP_016870625.1:p.Asp1033= | |
| XM_017015137.1:c.3084C>T | XP_016870626.1:p.Asp1028= | |
| XM_017015138.1:c.3084C>T | XP_016870627.1:p.Asp1028= | |
| XM_024447674.1:c.3027C>T | XP_024303442.1:p.Asp1009= | |
| XM_024447675.1:c.2961C>T | XP_024303443.1:p.Asp987= | |
| XM_024447676.1:c.2322C>T | XP_024303444.1:p.Asp774= | |
| XM_024447677.1:c.2322C>T | XP_024303445.1:p.Asp774= | |
| XM_024447680.1:c.2940C>T | XP_024303448.1:p.Asp980= | |
| NM_024757.5:c.3198C>T MANE Select | NP_079033.4:p.Asp1066= | |
| NM_001354263.2:c.3177C>T | NP_001341192.1:p.Asp1059= |