Linked Data
dbSNP Id:
rs12369635
gnomAD v2:
12-129561356-C-T
gnomAD v3:
12-129076811-C-T
gnomAD v4:
12-129076811-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.129076811C>T , CM000674.2:g.129076811C>T | GRCh38 |
| NC_000012.11:g.129561356C>T , CM000674.1:g.129561356C>T | GRCh37 |
| NC_000012.10:g.128127309C>T | NCBI36 |
| NG_052808.1:g.831857G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422113.7:c.2115+1723G>A MANE Select | ENSP00000408581.2:n.2115+1723G>A | |
| ENST00000389441.8:c.729+1723G>A | ENSP00000374092.4:n.729+1723G>A | |
| ENST00000422113.6:c.2115+1723G>A | ENSP00000408581.2:n.2115+1723G>A | |
| ENST00000619366.1:c.2055+1723G>A | ENSP00000478824.1:n.2055+1723G>A | |
| NM_133448.2:c.2115+1723G>A | NP_597705.2:n.2115+1723G>A | |
| XM_011537894.1:c.1968+1723G>A | XP_011536196.1:n.1968+1723G>A | |
| NM_133448.3:c.2115+1723G>A MANE Select | NP_597705.2:n.2115+1723G>A |