Linked Data
ClinVar Variation Id:
65736
ClinVar RCV Id:
RCV000055966
dbSNP Id:
rs137852725
gnomAD v4:
9-137814479-C-T
PubMed:
PMID:20945554
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137814479C>T , CM000671.2:g.137814479C>T | GRCh38 |
| NC_000009.11:g.140708931C>T , CM000671.1:g.140708931C>T | GRCh37 |
| NC_000009.10:g.139828752C>T | NCBI36 |
| NG_011776.1:g.200488C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000460843.6:c.3229C>T MANE Select | ENSP00000417980.1:p.Gln1077Ter | |
| ENST00000637161.1:c.3136C>T | ENSP00000490328.1:p.Gln1046Ter | |
| ENST00000637261.1:c.3269C>T | ENSP00000490815.1:n.3269C>T | |
| ENST00000637407.1:n.20C>T | ||
| ENST00000637891.1:c.1303C>T | ENSP00000490907.1:n.1303C>T | |
| ENST00000460843.5:c.3229C>T | ENSP00000417980.1:p.Gln1077Ter | |
| ENST00000462942.3:c.2086C>T | ENSP00000436107.1:p.Gln696Ter | |
| ENST00000483653.1:n.89C>T | ||
| ENST00000488242.2:n.755C>T | ||
| NM_024757.4:c.3229C>T | NP_079033.4:p.Gln1077Ter | |
| XM_005266105.3:c.3220C>T | XP_005266162.1:p.Gln1074Ter | |
| XM_005266110.1:c.3136C>T | XP_005266167.1:p.Gln1046Ter | |
| XM_006717288.2:c.3211C>T | XP_006717351.1:p.Gln1071Ter | |
| XM_011519021.1:c.3238C>T | XP_011517323.1:p.Gln1080Ter | |
| XM_011519022.1:c.3235C>T | XP_011517324.1:p.Gln1079Ter | |
| XM_011519023.1:c.3217C>T | XP_011517325.1:p.Gln1073Ter | |
| XM_011519024.1:c.3160C>T | XP_011517326.1:p.Gln1054Ter | |
| XM_011519025.1:c.3136C>T | XP_011517327.1:p.Gln1046Ter | |
| XM_011519026.1:c.3094C>T | XP_011517328.1:p.Gln1032Ter | |
| XM_011519029.1:c.1660C>T | XP_011517331.1:p.Gln554Ter | |
| XM_011519030.1:c.1012C>T | XP_011517332.1:p.Gln338Ter | |
| XM_011519031.1:c.799C>T | XP_011517333.1:p.Gln267Ter | |
| XM_011519032.1:c.799C>T | XP_011517334.1:p.Gln267Ter | |
| XM_011519033.1:c.3073C>T | XP_011517335.1:p.Gln1025Ter | |
| NM_001354263.1:c.3208C>T | NP_001341192.1:p.Gln1070Ter | |
| XM_005266105.5:c.3220C>T | XP_005266162.1:p.Gln1074Ter | |
| XM_011519021.3:c.3238C>T | XP_011517323.1:p.Gln1080Ter | |
| XM_011519022.3:c.3235C>T | XP_011517324.1:p.Gln1079Ter | |
| XM_011519023.3:c.3217C>T | XP_011517325.1:p.Gln1073Ter | |
| XM_011519029.3:c.1660C>T | XP_011517331.1:p.Gln554Ter | |
| XM_011519030.3:c.1012C>T | XP_011517332.1:p.Gln338Ter | |
| XM_017015134.1:c.3214C>T | XP_016870623.1:p.Gln1072Ter | |
| XM_017015136.2:c.3130C>T | XP_016870625.1:p.Gln1044Ter | |
| XM_017015137.1:c.3115C>T | XP_016870626.1:p.Gln1039Ter | |
| XM_017015138.1:c.3115C>T | XP_016870627.1:p.Gln1039Ter | |
| XM_024447674.1:c.3058C>T | XP_024303442.1:p.Gln1020Ter | |
| XM_024447675.1:c.2992C>T | XP_024303443.1:p.Gln998Ter | |
| XM_024447676.1:c.2353C>T | XP_024303444.1:p.Gln785Ter | |
| XM_024447677.1:c.2353C>T | XP_024303445.1:p.Gln785Ter | |
| XM_024447680.1:c.2971C>T | XP_024303448.1:p.Gln991Ter | |
| NM_024757.5:c.3229C>T MANE Select | NP_079033.4:p.Gln1077Ter | |
| NM_001354263.2:c.3208C>T | NP_001341192.1:p.Gln1070Ter |