Linked Data
ClinVar Variation Id:
757640
dbSNP Id:
rs139459283
ExAC:
9:140695385 C / T
gnomAD v2:
9-140695385-C-T
gnomAD v3:
9-137800933-C-T
gnomAD v4:
9-137800933-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137800933C>T , CM000671.2:g.137800933C>T | GRCh38 |
| NC_000009.11:g.140695385C>T , CM000671.1:g.140695385C>T | GRCh37 |
| NC_000009.10:g.139815206C>T | NCBI36 |
| NG_011776.1:g.186942C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2661C>T MANE Select | ENSP00000417980.1:p.Asp887= | |
| ENST00000636027.1:c.2547C>T | ENSP00000489961.1:p.Asp849= | |
| ENST00000637161.1:c.2568C>T | ENSP00000490328.1:p.Asp856= | |
| ENST00000637261.1:c.2701C>T | ENSP00000490815.1:n.2701C>T | |
| ENST00000637891.1:c.555C>T | ENSP00000490907.1:p.Asp185= | |
| ENST00000637949.1:c.339C>T | ENSP00000489786.1:p.Asp113= | |
| ENST00000460843.5:c.2661C>T | ENSP00000417980.1:p.Asp887= | |
| ENST00000462942.3:c.1518C>T | ENSP00000436107.1:p.Asp506= | |
| ENST00000482340.5:c.231C>T | ENSP00000486748.1:p.Asp77= | |
| ENST00000486164.5:c.239C>T | ||
| ENST00000488242.2:n.187C>T | ||
| ENST00000493484.5:c.231C>T | ENSP00000486503.1:p.Asp77= | |
| NM_024757.4:c.2661C>T | NP_079033.4:p.Asp887= | |
| XM_005266105.3:c.2652C>T | XP_005266162.1:p.Asp884= | |
| XM_005266110.1:c.2568C>T | XP_005266167.1:p.Asp856= | |
| XM_006717288.2:c.2643C>T | XP_006717351.1:p.Asp881= | |
| XM_011519021.1:c.2670C>T | XP_011517323.1:p.Asp890= | |
| XM_011519022.1:c.2667C>T | XP_011517324.1:p.Asp889= | |
| XM_011519023.1:c.2649C>T | XP_011517325.1:p.Asp883= | |
| XM_011519024.1:c.2592C>T | XP_011517326.1:p.Asp864= | |
| XM_011519025.1:c.2568C>T | XP_011517327.1:p.Asp856= | |
| XM_011519026.1:c.2526C>T | XP_011517328.1:p.Asp842= | |
| XM_011519027.1:c.2670C>T | XP_011517329.1:p.Asp890= | |
| XM_011519029.1:c.1092C>T | XP_011517331.1:p.Asp364= | |
| XM_011519030.1:c.444C>T | XP_011517332.1:p.Asp148= | |
| XM_011519031.1:c.231C>T | XP_011517333.1:p.Asp77= | |
| XM_011519032.1:c.231C>T | XP_011517334.1:p.Asp77= | |
| XM_011519033.1:c.2505C>T | XP_011517335.1:p.Asp835= | |
| NM_001354263.1:c.2640C>T | NP_001341192.1:p.Asp880= | |
| XM_005266105.5:c.2652C>T | XP_005266162.1:p.Asp884= | |
| XM_011519021.3:c.2670C>T | XP_011517323.1:p.Asp890= | |
| XM_011519022.3:c.2667C>T | XP_011517324.1:p.Asp889= | |
| XM_011519023.3:c.2649C>T | XP_011517325.1:p.Asp883= | |
| XM_011519029.3:c.1092C>T | XP_011517331.1:p.Asp364= | |
| XM_011519030.3:c.444C>T | XP_011517332.1:p.Asp148= | |
| XM_017015134.1:c.2646C>T | XP_016870623.1:p.Asp882= | |
| XM_017015136.2:c.2562C>T | XP_016870625.1:p.Asp854= | |
| XM_017015137.1:c.2547C>T | XP_016870626.1:p.Asp849= | |
| XM_017015138.1:c.2547C>T | XP_016870627.1:p.Asp849= | |
| XM_024447674.1:c.2490C>T | XP_024303442.1:p.Asp830= | |
| XM_024447675.1:c.2424C>T | XP_024303443.1:p.Asp808= | |
| XM_024447676.1:c.1785C>T | XP_024303444.1:p.Asp595= | |
| XM_024447677.1:c.1785C>T | XP_024303445.1:p.Asp595= | |
| XM_024447678.1:c.2568C>T | XP_024303446.1:p.Asp856= | |
| XM_024447680.1:c.2403C>T | XP_024303448.1:p.Asp801= | |
| NM_024757.5:c.2661C>T MANE Select | NP_079033.4:p.Asp887= | |
| NM_001354263.2:c.2640C>T | NP_001341192.1:p.Asp880= |