Linked Data
dbSNP Id:
rs267
ExAC:
8:19813318 C / T
gnomAD v2:
8-19813318-C-T
gnomAD v3:
8-19955807-C-T
gnomAD v4:
8-19955807-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955807C>T , CM000670.2:g.19955807C>T | GRCh38 |
| NC_000008.10:g.19813318C>T , CM000670.1:g.19813318C>T | GRCh37 |
| NC_000008.9:g.19857598C>T | NCBI36 |
| NG_008855.1:g.21737C>T | |
| NG_008855.2:g.59091C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.776-34C>T MANE Select | ENSP00000497642.1:n.776-34C>T | |
| ENST00000311322.8:c.776-34C>T | ENSP00000309757.6:n.776-34C>T | |
| NM_000237.2:c.776-34C>T | NP_000228.1:n.776-34C>T | |
| NM_000237.3:c.776-34C>T MANE Select | NP_000228.1:n.776-34C>T |