Linked Data
dbSNP Id:
rs781317208
ExAC:
19:7589810 C / G
gnomAD v2:
19-7589810-C-G
gnomAD v4:
19-7524924-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7524924C>G , CM000681.2:g.7524924C>G | GRCh38 |
| NC_000019.9:g.7589810C>G , CM000681.1:g.7589810C>G | GRCh37 |
| NC_000019.8:g.7495810C>G | NCBI36 |
| NG_015806.1:g.7315C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.32-37C>G MANE Select | ENSP00000264079.5:n.32-37C>G | |
| ENST00000264079.10:c.32-37C>G | ENSP00000264079.5:n.32-37C>G | |
| ENST00000394321.9:n.112-37C>G | ||
| ENST00000596390.1:n.148-37C>G | ||
| ENST00000601003.1:c.32-37C>G | ENSP00000469074.1:n.32-37C>G | |
| NM_020533.2:c.32-37C>G | NP_065394.1:n.32-37C>G | |
| XR_936293.1:n.31G>C | ||
| XR_936294.1:n.31G>C | ||
| XR_936295.1:n.31G>C | ||
| XR_936293.2:n.57G>C | ||
| XR_936294.2:n.57G>C | ||
| NM_020533.3:c.32-37C>G MANE Select | NP_065394.1:n.32-37C>G |