Linked Data
dbSNP Id:
rs1046407489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528136T>G , CM000681.2:g.7528136T>G | GRCh38 |
| NC_000019.9:g.7593022T>G , CM000681.1:g.7593022T>G | GRCh37 |
| NC_000019.8:g.7499022T>G | NCBI36 |
| NG_015806.1:g.10527T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.778-22T>G MANE Select | ENSP00000264079.5:n.778-22T>G | |
| ENST00000264079.10:c.778-22T>G | ENSP00000264079.5:n.778-22T>G | |
| ENST00000394321.9:n.1093-22T>G | ||
| NM_020533.2:c.778-22T>G | NP_065394.1:n.778-22T>G | |
| NM_020533.3:c.778-22T>G MANE Select | NP_065394.1:n.778-22T>G |