Linked Data
dbSNP Id:
rs11588062
gnomAD v2:
1-46779764-C-T
gnomAD v3:
1-46314092-C-T
gnomAD v4:
1-46314092-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46314092C>T , CM000663.2:g.46314092C>T | GRCh38 |
| NC_000001.10:g.46779764C>T , CM000663.1:g.46779764C>T | GRCh37 |
| NC_000001.9:g.46552351C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311672.10:c.244-2460C>T MANE Select | ENSP00000309565.5:n.244-2460C>T | |
| ENST00000311672.9:c.244-2460C>T | ENSP00000309565.5:n.244-2460C>T | |
| ENST00000460947.1:n.397-2460C>T | ||
| ENST00000489056.5:c.*83-2460C>T | ENSP00000484857.1:n.*83-2460C>T | |
| ENST00000496387.5:c.*83-2460C>T | ENSP00000477826.1:n.*83-2460C>T | |
| NM_001297565.1:c.226-2460C>T | NP_001284494.1:n.226-2460C>T | |
| NM_001297566.1:c.217-2460C>T | NP_001284495.1:n.217-2460C>T | |
| NM_006004.3:c.244-2460C>T | NP_005995.2:n.244-2460C>T | |
| NM_006004.4:c.244-2460C>T MANE Select | NP_005995.2:n.244-2460C>T | |
| NM_001297565.2:c.226-2460C>T | NP_001284494.1:n.226-2460C>T | |
| NM_001297566.2:c.217-2460C>T | NP_001284495.1:n.217-2460C>T |