Linked Data
dbSNP Id:
rs753049072
ExAC:
19:7598756 T / G
gnomAD v2:
19-7598756-T-G
gnomAD v4:
19-7533870-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533870T>G , CM000681.2:g.7533870T>G | GRCh38 |
| NC_000019.9:g.7598756T>G , CM000681.1:g.7598756T>G | GRCh37 |
| NC_000019.8:g.7504756T>G | NCBI36 |
| NG_013374.1:g.4719T>G | |
| NG_015806.1:g.16261T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*75T>G MANE Select | ENSP00000264079.5:n.*75T>G | |
| ENST00000264079.10:c.*75T>G | ENSP00000264079.5:n.*75T>G | |
| ENST00000394321.9:n.2133T>G | ||
| ENST00000599334.1:c.546T>G | ||
| ENST00000601870.1:c.169+2T>G | ||
| ENST00000602227.1:n.372T>G | ||
| NM_020533.2:c.*75T>G | NP_065394.1:n.*75T>G | |
| NM_020533.3:c.*75T>G MANE Select | NP_065394.1:n.*75T>G |