Linked Data
dbSNP Id:
rs915113174
gnomAD v2:
13-31312840-G-A
gnomAD v3:
13-30738703-G-A
gnomAD v4:
13-30738703-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30738703G>A , CM000675.2:g.30738703G>A | GRCh38 |
| NC_000013.10:g.31312840G>A , CM000675.1:g.31312840G>A | GRCh37 |
| NC_000013.9:g.30210840G>A | NCBI36 |
| NG_011963.2:g.30226G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380490.5:c.70+3028G>A MANE Select | ENSP00000369858.3:n.70+3028G>A | |
| ENST00000380490.4:c.70+3028G>A | ENSP00000369858.3:n.70+3028G>A | |
| ENST00000617770.4:c.241+3028G>A | ENSP00000479870.1:n.241+3028G>A | |
| NM_001204406.1:c.241+3028G>A | NP_001191335.1:n.241+3028G>A | |
| NM_001629.3:c.70+3028G>A | NP_001620.2:n.70+3028G>A | |
| XM_011535024.1:c.70+3028G>A | XP_011533326.1:n.70+3028G>A | |
| NM_001204406.2:c.241+3028G>A | NP_001191335.1:n.241+3028G>A | |
| NM_001629.4:c.70+3028G>A MANE Select | NP_001620.2:n.70+3028G>A |