Linked Data
dbSNP Id:
rs753664856
ExAC:
13:48619774 A / G
gnomAD v2:
13-48619774-A-G
gnomAD v3:
13-48045638-A-G
gnomAD v4:
13-48045638-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045638A>G , CM000675.2:g.48045638A>G | GRCh38 |
| NC_000013.10:g.48619774A>G , CM000675.1:g.48619774A>G | GRCh37 |
| NC_000013.9:g.47517775A>G | NCBI36 |
| NG_047021.1:g.13072A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258662.3:c.356-22A>G MANE Select | ENSP00000258662.1:n.356-22A>G | |
| ENST00000258662.2:c.356-22A>G | ENSP00000258662.1:n.356-22A>G | |
| NM_018283.2:c.356-22A>G | NP_060753.1:n.356-22A>G | |
| NM_018283.3:c.356-22A>G | NP_060753.1:n.356-22A>G | |
| NR_136687.1:n.536-22A>G | ||
| NR_136688.1:n.536-22A>G | ||
| NM_018283.4:c.356-22A>G MANE Select | NP_060753.1:n.356-22A>G | |
| NR_136687.2:n.377-22A>G | ||
| NR_136688.2:n.377-22A>G |