Linked Data
ClinVar Variation Id:
291089
dbSNP Id:
rs375450688
ExAC:
1:64125254 C / T
gnomAD v2:
1-64125254-C-T
gnomAD v3:
1-63659583-C-T
gnomAD v4:
1-63659583-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63659583C>T , CM000663.2:g.63659583C>T | GRCh38 |
| NC_000001.10:g.64125254C>T , CM000663.1:g.64125254C>T | GRCh37 |
| NC_000001.9:g.63897842C>T | NCBI36 |
| NG_016966.1:g.71308C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.1600-3C>T MANE Select | ENSP00000360125.3:n.1600-3C>T | |
| ENST00000650546.1:c.1722-3C>T | ENSP00000497812.1:n.1722-3C>T | |
| ENST00000371083.4:c.1654-3C>T | ENSP00000360124.4:n.1654-3C>T | |
| ENST00000371084.7:c.1600-3C>T | ENSP00000360125.3:n.1600-3C>T | |
| ENST00000540265.5:c.1009-3C>T | ENSP00000443449.1:n.1009-3C>T | |
| NM_001172818.1:c.1654-3C>T | NP_001166289.1:n.1654-3C>T | |
| NM_001172819.1:c.1009-3C>T | NP_001166290.1:n.1009-3C>T | |
| NM_002633.2:c.1600-3C>T | NP_002624.2:n.1600-3C>T | |
| NM_002633.3:c.1600-3C>T MANE Select | NP_002624.2:n.1600-3C>T | |
| NM_001172819.2:c.1009-3C>T | NP_001166290.1:n.1009-3C>T |