Linked Data
dbSNP Id:
rs891764287
gnomAD v2:
14-76173683-A-G
gnomAD v3:
14-75707340-A-G
gnomAD v4:
14-75707340-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75707340A>G , CM000676.2:g.75707340A>G | GRCh38 |
| NC_000014.8:g.76173683A>G , CM000676.1:g.76173683A>G | GRCh37 |
| NC_000014.7:g.75243436A>G | NCBI36 |
| NG_016974.1:g.51133A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298832.14:c.655+253A>G MANE Select | ENSP00000298832.9:n.655+253A>G | |
| ENST00000286650.9:c.655+253A>G | ENSP00000286650.5:n.655+253A>G | |
| ENST00000298832.13:c.655+253A>G | ENSP00000298832.9:n.655+253A>G | |
| ENST00000555422.5:n.124+253A>G | ||
| ENST00000556173.5:n.581+253A>G | ||
| ENST00000557636.5:c.655+253A>G | ENSP00000450713.1:n.655+253A>G | |
| NM_015072.4:c.655+253A>G | NP_055887.3:n.655+253A>G | |
| NM_015072.5:c.655+253A>G MANE Select | NP_055887.3:n.655+253A>G |