Linked Data
ClinVar Variation Id:
207640
dbSNP Id:
rs148931779
ExAC:
9:135771992 C / A
gnomAD v2:
9-135771992-C-A
gnomAD v3:
9-132896605-C-A
gnomAD v4:
9-132896605-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132896605C>A , CM000671.2:g.132896605C>A | GRCh38 |
| NC_000009.11:g.135771992C>A , CM000671.1:g.135771992C>A | GRCh37 |
| NC_000009.10:g.134761813C>A | NCBI36 |
| NG_012386.1:g.53029G>T , LRG_486:g.53029G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.3122G>T | ENSP00000496126.2:p.Ser1041Ile | |
| ENST00000490179.4:c.3125G>T | ENSP00000495533.2:p.Ser1042Ile | |
| ENST00000642261.2:c.*981G>T | ENSP00000494743.2:n.*981G>T | |
| ENST00000643275.2:c.*1065G>T | ENSP00000495598.2:n.*1065G>T | |
| ENST00000643362.2:c.2738G>T | ENSP00000496398.2:p.Ser913Ile | |
| ENST00000643625.2:c.*867G>T | ENSP00000495546.2:n.*867G>T | |
| ENST00000643691.2:c.2762G>T | ENSP00000494916.2:p.Ser921Ile | |
| ENST00000644184.2:c.3083G>T | ENSP00000495428.2:p.Ser1028Ile | |
| ENST00000645129.2:c.2969G>T | ENSP00000493639.2:p.Ser990Ile | |
| ENST00000646440.2:c.3125G>T | ENSP00000495830.2:p.Ser1042Ile | |
| ENST00000298552.9:c.3125G>T MANE Select | ENSP00000298552.3:p.Ser1042Ile | |
| ENST00000642261.1:c.1262G>T | ||
| ENST00000642617.1:c.3122G>T | ENSP00000493773.1:p.Ser1041Ile | |
| ENST00000642627.1:c.3107G>T | ENSP00000496772.1:p.Ser1036Ile | |
| ENST00000642811.1:c.*2895G>T | ENSP00000495554.1:n.*2895G>T | |
| ENST00000643072.1:c.2972G>T | ENSP00000496691.1:p.Ser991Ile | |
| ENST00000643275.1:c.1599G>T | ENSP00000495598.1:n.1599G>T | |
| ENST00000643583.1:c.3110G>T | ENSP00000494685.1:p.Ser1037Ile | |
| ENST00000643625.1:c.1002G>T | ENSP00000495546.1:n.1002G>T | |
| ENST00000643875.1:c.3125G>T | ENSP00000495158.1:p.Ser1042Ile | |
| ENST00000644097.1:c.3122G>T | ENSP00000494682.1:p.Ser1041Ile | |
| ENST00000644184.1:c.1820G>T | ENSP00000495428.1:p.Ser607Ile | |
| ENST00000644255.1:c.*2892G>T | ENSP00000493608.1:n.*2892G>T | |
| ENST00000644319.1:n.3500G>T | ||
| ENST00000644786.1:n.784G>T | ||
| ENST00000644882.1:n.2033G>T | ||
| ENST00000645901.1:n.3976G>T | ||
| ENST00000646391.1:c.*2895G>T | ENSP00000494104.1:n.*2895G>T | |
| ENST00000646625.1:c.3125G>T | ENSP00000496263.1:p.Ser1042Ile | |
| ENST00000647262.1:n.2090G>T | ||
| ENST00000647279.1:c.*2364G>T | ENSP00000494502.1:n.*2364G>T | |
| ENST00000647534.1:n.2189G>T | ||
| ENST00000298552.7:c.3125G>T | ENSP00000298552.3:p.Ser1042Ile | |
| ENST00000440111.6:c.3125G>T | ENSP00000394524.2:p.Ser1042Ile | |
| ENST00000545250.5:c.2972G>T | ENSP00000444017.1:p.Ser991Ile | |
| NM_000368.4:c.3125G>T , LRG_486t1:c.3125G>T | NP_000359.1:p.Ser1042Ile | |
| NM_001162426.1:c.3122G>T | NP_001155898.1:p.Ser1041Ile | |
| NM_001162427.1:c.2972G>T | NP_001155899.1:p.Ser991Ile | |
| XM_005272211.1:c.3125G>T | XP_005272268.1:p.Ser1042Ile | |
| XM_006717271.1:c.3125G>T | XP_006717334.1:p.Ser1042Ile | |
| XM_011518979.1:c.3125G>T | XP_011517281.1:p.Ser1042Ile | |
| NM_001362177.1:c.2762G>T | NP_001349106.1:p.Ser921Ile | |
| XM_011518979.2:c.3125G>T | XP_011517281.1:p.Ser1042Ile | |
| XM_017015096.1:c.3125G>T | XP_016870585.1:p.Ser1042Ile | |
| XM_017015097.1:c.3125G>T | XP_016870586.1:p.Ser1042Ile | |
| XM_017015098.1:c.3122G>T | XP_016870587.1:p.Ser1041Ile | |
| XM_017015100.1:c.2762G>T | XP_016870589.1:p.Ser921Ile | |
| XM_017015101.1:c.2759G>T | XP_016870590.1:p.Ser920Ile | |
| NM_000368.5:c.3125G>T MANE Select | NP_000359.1:p.Ser1042Ile | |
| NM_001162426.2:c.3122G>T | NP_001155898.1:p.Ser1041Ile | |
| NM_001162427.2:c.2972G>T | NP_001155899.1:p.Ser991Ile | |
| NM_001362177.2:c.2762G>T | NP_001349106.1:p.Ser921Ile |