Linked Data
ClinVar Variation Id:
411272
dbSNP Id:
rs1060503220
gnomAD v3:
9-132897178-T-A
gnomAD v4:
9-132897178-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132897178T>A , CM000671.2:g.132897178T>A | GRCh38 |
| NC_000009.11:g.135772565T>A , CM000671.1:g.135772565T>A | GRCh37 |
| NC_000009.10:g.134762386T>A | NCBI36 |
| NG_012386.1:g.52456A>T , LRG_486:g.52456A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2972+6A>T | ENSP00000496126.2:n.2972+6A>T | |
| ENST00000490179.4:c.2975+6A>T | ENSP00000495533.2:n.2975+6A>T | |
| ENST00000642261.2:c.*831+6A>T | ENSP00000494743.2:n.*831+6A>T | |
| ENST00000643275.2:c.*915+6A>T | ENSP00000495598.2:n.*915+6A>T | |
| ENST00000643362.2:c.2588+6A>T | ENSP00000496398.2:n.2588+6A>T | |
| ENST00000643625.2:c.*717+6A>T | ENSP00000495546.2:n.*717+6A>T | |
| ENST00000643691.2:c.2612+6A>T | ENSP00000494916.2:n.2612+6A>T | |
| ENST00000644184.2:c.2933+6A>T | ENSP00000495428.2:n.2933+6A>T | |
| ENST00000645129.2:c.2819+6A>T | ENSP00000493639.2:n.2819+6A>T | |
| ENST00000646440.2:c.2975+6A>T | ENSP00000495830.2:n.2975+6A>T | |
| ENST00000298552.9:c.2975+6A>T MANE Select | ENSP00000298552.3:n.2975+6A>T | |
| ENST00000642261.1:c.1112+6A>T | ||
| ENST00000642617.1:c.2972+6A>T | ENSP00000493773.1:n.2972+6A>T | |
| ENST00000642627.1:c.2957+6A>T | ENSP00000496772.1:n.2957+6A>T | |
| ENST00000642811.1:c.*2745+6A>T | ENSP00000495554.1:n.*2745+6A>T | |
| ENST00000643072.1:c.2822+6A>T | ENSP00000496691.1:n.2822+6A>T | |
| ENST00000643275.1:c.1449+6A>T | ENSP00000495598.1:n.1449+6A>T | |
| ENST00000643583.1:c.2960+6A>T | ENSP00000494685.1:n.2960+6A>T | |
| ENST00000643625.1:c.852+6A>T | ENSP00000495546.1:n.852+6A>T | |
| ENST00000643875.1:c.2975+6A>T | ENSP00000495158.1:n.2975+6A>T | |
| ENST00000644097.1:c.2972+6A>T | ENSP00000494682.1:n.2972+6A>T | |
| ENST00000644184.1:c.1670+6A>T | ENSP00000495428.1:n.1670+6A>T | |
| ENST00000644255.1:c.*2742+6A>T | ENSP00000493608.1:n.*2742+6A>T | |
| ENST00000644319.1:n.3350+6A>T | ||
| ENST00000644786.1:n.634+6A>T | ||
| ENST00000644882.1:n.1883+6A>T | ||
| ENST00000645901.1:n.3826+6A>T | ||
| ENST00000646391.1:c.*2745+6A>T | ENSP00000494104.1:n.*2745+6A>T | |
| ENST00000646625.1:c.2975+6A>T | ENSP00000496263.1:n.2975+6A>T | |
| ENST00000647262.1:n.1940+6A>T | ||
| ENST00000647279.1:c.*2214+6A>T | ENSP00000494502.1:n.*2214+6A>T | |
| ENST00000647534.1:n.2039+6A>T | ||
| ENST00000298552.7:c.2975+6A>T | ENSP00000298552.3:n.2975+6A>T | |
| ENST00000440111.6:c.2975+6A>T | ENSP00000394524.2:n.2975+6A>T | |
| ENST00000545250.5:c.2822+6A>T | ENSP00000444017.1:n.2822+6A>T | |
| NM_000368.4:c.2975+6A>T , LRG_486t1:c.2975+6A>T | NP_000359.1:n.2975+6A>T | |
| NM_001162426.1:c.2972+6A>T | NP_001155898.1:n.2972+6A>T | |
| NM_001162427.1:c.2822+6A>T | NP_001155899.1:n.2822+6A>T | |
| XM_005272211.1:c.2975+6A>T | XP_005272268.1:n.2975+6A>T | |
| XM_006717271.1:c.2975+6A>T | XP_006717334.1:n.2975+6A>T | |
| XM_011518979.1:c.2975+6A>T | XP_011517281.1:n.2975+6A>T | |
| NM_001362177.1:c.2612+6A>T | NP_001349106.1:n.2612+6A>T | |
| XM_011518979.2:c.2975+6A>T | XP_011517281.1:n.2975+6A>T | |
| XM_017015096.1:c.2975+6A>T | XP_016870585.1:n.2975+6A>T | |
| XM_017015097.1:c.2975+6A>T | XP_016870586.1:n.2975+6A>T | |
| XM_017015098.1:c.2972+6A>T | XP_016870587.1:n.2972+6A>T | |
| XM_017015100.1:c.2612+6A>T | XP_016870589.1:n.2612+6A>T | |
| XM_017015101.1:c.2609+6A>T | XP_016870590.1:n.2609+6A>T | |
| NM_000368.5:c.2975+6A>T MANE Select | NP_000359.1:n.2975+6A>T | |
| NM_001162426.2:c.2972+6A>T | NP_001155898.1:n.2972+6A>T | |
| NM_001162427.2:c.2822+6A>T | NP_001155899.1:n.2822+6A>T | |
| NM_001362177.2:c.2612+6A>T | NP_001349106.1:n.2612+6A>T |