Linked Data
dbSNP Id:
rs10506645
gnomAD v2:
12-72385500-C-T
gnomAD v3:
12-71991720-C-T
gnomAD v4:
12-71991720-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71991720C>T , CM000674.2:g.71991720C>T | GRCh38 |
| NC_000012.11:g.72385500C>T , CM000674.1:g.72385500C>T | GRCh37 |
| NC_000012.10:g.70671767C>T | NCBI36 |
| NG_008279.1:g.57875C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333850.4:c.942-2719C>T MANE Select | ENSP00000329093.3:n.942-2719C>T | |
| ENST00000333850.3:c.942-2719C>T | ENSP00000329093.3:n.942-2719C>T | |
| NM_173353.3:c.942-2719C>T | NP_775489.2:n.942-2719C>T | |
| XM_011537899.1:c.348-2719C>T | XP_011536201.1:n.348-2719C>T | |
| NM_173353.4:c.942-2719C>T MANE Select | NP_775489.2:n.942-2719C>T |