Linked Data
dbSNP Id:
rs1467549815
gnomAD v2:
11-6340382-A-G
gnomAD v3:
11-6319152-A-G
gnomAD v4:
11-6319152-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319152A>G , CM000673.2:g.6319152A>G | GRCh38 |
| NC_000011.9:g.6340382A>G , CM000673.1:g.6340382A>G | GRCh37 |
| NC_000011.8:g.6296958A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.*11T>C MANE Select | ENSP00000307292.3:n.*11T>C | |
| ENST00000303927.3:c.*11T>C | ENSP00000307292.3:n.*11T>C | |
| ENST00000524852.1:n.583T>C | ||
| ENST00000530979.1:c.*11T>C | ENSP00000432047.1:n.*11T>C | |
| ENST00000532354.1:n.819T>C | ||
| NM_145040.2:c.*11T>C | NP_659477.2:n.*11T>C | |
| XR_930997.1:n.720+932A>G | ||
| XR_242848.4:n.12A>G | ||
| NM_145040.3:c.*11T>C MANE Select | NP_659477.2:n.*11T>C |