Linked Data
ClinVar Variation Id:
365391
dbSNP Id:
rs112968492
gnomAD v2:
9-135767175-G-A
gnomAD v3:
9-132891788-G-A
gnomAD v4:
9-132891788-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132891788G>A , CM000671.2:g.132891788G>A | GRCh38 |
| NC_000009.11:g.135767175G>A , CM000671.1:g.135767175G>A | GRCh37 |
| NC_000009.10:g.134756996G>A | NCBI36 |
| NG_012386.1:g.57846C>T , LRG_486:g.57846C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.*4447C>T | ENSP00000496126.2:n.*4447C>T | |
| ENST00000490179.4:c.*4447C>T | ENSP00000495533.2:n.*4447C>T | |
| ENST00000642261.2:c.*5798C>T | ENSP00000494743.2:n.*5798C>T | |
| ENST00000643275.2:c.*5882C>T | ENSP00000495598.2:n.*5882C>T | |
| ENST00000643362.2:c.*4447C>T | ENSP00000496398.2:n.*4447C>T | |
| ENST00000643625.2:c.*5684C>T | ENSP00000495546.2:n.*5684C>T | |
| ENST00000643691.2:c.*4447C>T | ENSP00000494916.2:n.*4447C>T | |
| ENST00000644184.2:c.*4447C>T | ENSP00000495428.2:n.*4447C>T | |
| ENST00000645129.2:c.*4447C>T | ENSP00000493639.2:n.*4447C>T | |
| ENST00000646440.2:c.*4447C>T | ENSP00000495830.2:n.*4447C>T | |
| ENST00000298552.9:c.*4447C>T MANE Select | ENSP00000298552.3:n.*4447C>T | |
| ENST00000642627.1:c.*4447C>T | ENSP00000496772.1:n.*4447C>T | |
| ENST00000643625.1:c.5819C>T | ENSP00000495546.1:n.5819C>T | |
| ENST00000644097.1:c.*4447C>T | ENSP00000494682.1:n.*4447C>T | |
| ENST00000644184.1:c.6637C>T | ENSP00000495428.1:n.6637C>T | |
| ENST00000644786.1:n.5601C>T | ||
| ENST00000644882.1:n.6850C>T | ||
| ENST00000646625.1:c.*4447C>T | ENSP00000496263.1:n.*4447C>T | |
| ENST00000647534.1:n.7006C>T | ||
| ENST00000298552.7:c.*4447C>T | ENSP00000298552.3:n.*4447C>T | |
| ENST00000440111.6:c.*4447C>T | ENSP00000394524.2:n.*4447C>T | |
| ENST00000545250.5:c.*4447C>T | ENSP00000444017.1:n.*4447C>T | |
| NM_000368.4:c.*4447C>T , LRG_486t1:c.*4447C>T | NP_000359.1:n.*4447C>T | |
| NM_001162426.1:c.*4447C>T | NP_001155898.1:n.*4447C>T | |
| NM_001162427.1:c.*4447C>T | NP_001155899.1:n.*4447C>T | |
| XM_005272211.1:c.*4447C>T | XP_005272268.1:n.*4447C>T | |
| XM_006717271.1:c.*4447C>T | XP_006717334.1:n.*4447C>T | |
| XM_011518979.1:c.*4447C>T | XP_011517281.1:n.*4447C>T | |
| NM_001362177.1:c.*4447C>T | NP_001349106.1:n.*4447C>T | |
| XM_011518979.2:c.*4447C>T | XP_011517281.1:n.*4447C>T | |
| XM_017015096.1:c.*4447C>T | XP_016870585.1:n.*4447C>T | |
| XM_017015097.1:c.*4447C>T | XP_016870586.1:n.*4447C>T | |
| XM_017015098.1:c.*4447C>T | XP_016870587.1:n.*4447C>T | |
| XM_017015100.1:c.*4447C>T | XP_016870589.1:n.*4447C>T | |
| XM_017015101.1:c.*4447C>T | XP_016870590.1:n.*4447C>T | |
| NM_000368.5:c.*4447C>T MANE Select | NP_000359.1:n.*4447C>T | |
| NM_001162426.2:c.*4447C>T | NP_001155898.1:n.*4447C>T | |
| NM_001162427.2:c.*4447C>T | NP_001155899.1:n.*4447C>T | |
| NM_001362177.2:c.*4447C>T | NP_001349106.1:n.*4447C>T |