Linked Data
ClinVar Variation Id:
237715
dbSNP Id:
rs202121327
ExAC:
9:135772112 T / A
gnomAD v2:
9-135772112-T-A
gnomAD v3:
9-132896725-T-A
gnomAD v4:
9-132896725-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132896725T>A , CM000671.2:g.132896725T>A | GRCh38 |
| NC_000009.11:g.135772112T>A , CM000671.1:g.135772112T>A | GRCh37 |
| NC_000009.10:g.134761933T>A | NCBI36 |
| NG_012386.1:g.52909A>T , LRG_486:g.52909A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.3002A>T | ENSP00000496126.2:p.Asp1001Val | |
| ENST00000490179.4:c.3005A>T | ENSP00000495533.2:p.Asp1002Val | |
| ENST00000642261.2:c.*861A>T | ENSP00000494743.2:n.*861A>T | |
| ENST00000643275.2:c.*945A>T | ENSP00000495598.2:n.*945A>T | |
| ENST00000643362.2:c.2618A>T | ENSP00000496398.2:p.Asp873Val | |
| ENST00000643625.2:c.*747A>T | ENSP00000495546.2:n.*747A>T | |
| ENST00000643691.2:c.2642A>T | ENSP00000494916.2:p.Asp881Val | |
| ENST00000644184.2:c.2963A>T | ENSP00000495428.2:p.Asp988Val | |
| ENST00000645129.2:c.2849A>T | ENSP00000493639.2:p.Asp950Val | |
| ENST00000646440.2:c.3005A>T | ENSP00000495830.2:p.Asp1002Val | |
| ENST00000298552.9:c.3005A>T MANE Select | ENSP00000298552.3:p.Asp1002Val | |
| ENST00000642261.1:c.1142A>T | ||
| ENST00000642617.1:c.3002A>T | ENSP00000493773.1:p.Asp1001Val | |
| ENST00000642627.1:c.2987A>T | ENSP00000496772.1:p.Asp996Val | |
| ENST00000642811.1:c.*2775A>T | ENSP00000495554.1:n.*2775A>T | |
| ENST00000643072.1:c.2852A>T | ENSP00000496691.1:p.Asp951Val | |
| ENST00000643275.1:c.1479A>T | ENSP00000495598.1:n.1479A>T | |
| ENST00000643583.1:c.2990A>T | ENSP00000494685.1:p.Asp997Val | |
| ENST00000643625.1:c.882A>T | ENSP00000495546.1:n.882A>T | |
| ENST00000643875.1:c.3005A>T | ENSP00000495158.1:p.Asp1002Val | |
| ENST00000644097.1:c.3002A>T | ENSP00000494682.1:p.Asp1001Val | |
| ENST00000644184.1:c.1700A>T | ENSP00000495428.1:p.Asp567Val | |
| ENST00000644255.1:c.*2772A>T | ENSP00000493608.1:n.*2772A>T | |
| ENST00000644319.1:n.3380A>T | ||
| ENST00000644786.1:n.664A>T | ||
| ENST00000644882.1:n.1913A>T | ||
| ENST00000645901.1:n.3856A>T | ||
| ENST00000646391.1:c.*2775A>T | ENSP00000494104.1:n.*2775A>T | |
| ENST00000646625.1:c.3005A>T | ENSP00000496263.1:p.Asp1002Val | |
| ENST00000647262.1:n.1970A>T | ||
| ENST00000647279.1:c.*2244A>T | ENSP00000494502.1:n.*2244A>T | |
| ENST00000647534.1:n.2069A>T | ||
| ENST00000298552.7:c.3005A>T | ENSP00000298552.3:p.Asp1002Val | |
| ENST00000440111.6:c.3005A>T | ENSP00000394524.2:p.Asp1002Val | |
| ENST00000545250.5:c.2852A>T | ENSP00000444017.1:p.Asp951Val | |
| NM_000368.4:c.3005A>T , LRG_486t1:c.3005A>T | NP_000359.1:p.Asp1002Val | |
| NM_001162426.1:c.3002A>T | NP_001155898.1:p.Asp1001Val | |
| NM_001162427.1:c.2852A>T | NP_001155899.1:p.Asp951Val | |
| XM_005272211.1:c.3005A>T | XP_005272268.1:p.Asp1002Val | |
| XM_006717271.1:c.3005A>T | XP_006717334.1:p.Asp1002Val | |
| XM_011518979.1:c.3005A>T | XP_011517281.1:p.Asp1002Val | |
| NM_001362177.1:c.2642A>T | NP_001349106.1:p.Asp881Val | |
| XM_011518979.2:c.3005A>T | XP_011517281.1:p.Asp1002Val | |
| XM_017015096.1:c.3005A>T | XP_016870585.1:p.Asp1002Val | |
| XM_017015097.1:c.3005A>T | XP_016870586.1:p.Asp1002Val | |
| XM_017015098.1:c.3002A>T | XP_016870587.1:p.Asp1001Val | |
| XM_017015100.1:c.2642A>T | XP_016870589.1:p.Asp881Val | |
| XM_017015101.1:c.2639A>T | XP_016870590.1:p.Asp880Val | |
| NM_000368.5:c.3005A>T MANE Select | NP_000359.1:p.Asp1002Val | |
| NM_001162426.2:c.3002A>T | NP_001155898.1:p.Asp1001Val | |
| NM_001162427.2:c.2852A>T | NP_001155899.1:p.Asp951Val | |
| NM_001362177.2:c.2642A>T | NP_001349106.1:p.Asp881Val |