Linked Data
ClinVar Variation Id:
2739756
ClinVar RCV Id:
RCV003497479
dbSNP Id:
rs979531039
gnomAD v2:
11-64526055-T-A
gnomAD v3:
11-64758583-T-A
gnomAD v4:
11-64758583-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758583T>A , CM000673.2:g.64758583T>A | GRCh38 |
| NC_000011.9:g.64526055T>A , CM000673.1:g.64526055T>A | GRCh37 |
| NC_000011.8:g.64282631T>A | NCBI36 |
| NG_013018.1:g.7133A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.345+20A>T MANE Select | ENSP00000164139.3:n.345+20A>T | |
| ENST00000164139.3:c.345+20A>T | ENSP00000164139.3:n.345+20A>T | |
| ENST00000377432.7:c.244-317A>T | ENSP00000366650.3:n.244-317A>T | |
| NM_001164716.1:c.244-317A>T | NP_001158188.1:n.244-317A>T | |
| NM_005609.2:c.345+20A>T | NP_005600.1:n.345+20A>T | |
| NM_005609.3:c.345+20A>T | NP_005600.1:n.345+20A>T | |
| NM_005609.4:c.345+20A>T MANE Select | NP_005600.1:n.345+20A>T |