Linked Data
dbSNP Id:
rs148558861
gnomAD v2:
8-119959956-A-C
gnomAD v3:
8-118947717-A-C
gnomAD v4:
8-118947717-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118947717A>C , CM000670.2:g.118947717A>C | GRCh38 |
| NC_000008.10:g.119959956A>C , CM000670.1:g.119959956A>C | GRCh37 |
| NC_000008.9:g.120029137A>C | NCBI36 |
| NG_012202.1:g.9428T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297350.9:c.30+4075T>G MANE Select | ENSP00000297350.4:n.30+4075T>G | |
| ENST00000297350.8:c.30+4075T>G | ENSP00000297350.4:n.30+4075T>G | |
| ENST00000517352.1:c.30+4075T>G | ENSP00000427924.1:n.30+4075T>G | |
| NM_002546.3:c.30+4075T>G | NP_002537.3:n.30+4075T>G | |
| NM_002546.4:c.30+4075T>G MANE Select | NP_002537.3:n.30+4075T>G |