Linked Data
dbSNP Id:
rs3829251
gnomAD v2:
11-71194559-G-A
gnomAD v3:
11-71483513-G-A
gnomAD v4:
11-71483513-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71483513G>A , CM000673.2:g.71483513G>A | GRCh38 |
| NC_000011.9:g.71194559G>A , CM000673.1:g.71194559G>A | GRCh37 |
| NC_000011.8:g.70872207G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319023.7:c.1319+496G>A MANE Select | ENSP00000326424.2:n.1319+496G>A | |
| ENST00000319023.6:c.1319+496G>A | ENSP00000326424.2:n.1319+496G>A | |
| ENST00000524450.1:n.295+496G>A | ||
| ENST00000525200.5:c.2625+496G>A | ||
| ENST00000526039.6:n.494+496G>A | ||
| ENST00000529840.5:c.206+496G>A | ENSP00000437172.1:n.206+496G>A | |
| ENST00000530055.5:c.206+496G>A | ENSP00000431820.1:n.206+496G>A | |
| ENST00000531236.1:n.1384+496G>A | ||
| NM_018161.4:c.1319+496G>A | NP_060631.2:n.1319+496G>A | |
| NM_018161.5:c.1319+496G>A MANE Select | NP_060631.2:n.1319+496G>A |